{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,1,25]],"date-time":"2025-01-25T05:15:09Z","timestamp":1737782109944,"version":"3.33.0"},"reference-count":27,"publisher":"S.C. JURNALUL PENTRU MEDICINA SI VIATA S.R.L","issue":"9","license":[{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JMedLife"],"published-print":{"date-parts":[[2024,9]]},"DOI":"10.25122\/jml-2024-0090","type":"journal-article","created":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T03:41:14Z","timestamp":1737690074000},"page":"892-896","source":"Crossref","is-referenced-by-count":0,"title":["A homozygous nonsense mutation identified in <i>COL7A1<\/i> in a family with autosomal recessive dystrophic epidermolysis bullosa"],"prefix":"10.25122","volume":"17","author":[{"given":"Sulman","family":"Basit","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Center for Genetics and Inherited Diseases, Taibah University Almadinah, Medina, Kingdom of Saudi Arabia","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Ayub","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Institute of Biochemistry, University of Balochistan, Quetta, Pakistan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xing","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saima","family":"Anwer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Institute of Biochemistry, University of Balochistan, Quetta, Pakistan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janine","family":"Altm\u00fcller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Cologne Center for Genomics, University of Cologne, Cologne, Germany","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Naeem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Institute of Biochemistry, University of Balochistan, Quetta, Pakistan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noor","family":"Hassan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Institute of Biochemistry, University of Balochistan, Quetta, Pakistan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kafaitullah","family":"Khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Department of Microbiology, University of Balochistan, Quetta, Pakistan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Motameny","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Cologne Center for Genomics, University of Cologne, Cologne, Germany","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samira","family":"Khaliq","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Institute of Biochemistry, University of Balochistan, Quetta, Pakistan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fazal Ur","family":"Rehman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Department of Microbiology, University of Balochistan, Quetta, Pakistan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Syed Ashraf","family":"Uddin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Institute of Biochemistry, University of Balochistan, Quetta, Pakistan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"University of Information Technology and Management Sciences, Quetta, Pakistan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdul","family":"Wali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"University of Information Technology and Management Sciences, Quetta, Pakistan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina","family":"Betz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10755","reference":[{"issue":"3","key":"ref1","doi-asserted-by":"publisher","first-page":"1328","DOI":"10.1172\/JCI117783","article-title":"Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa","volume":"95","author":"Christiano AM, Suga Y, Greenspan DS, Ogawa H, Uitto J","year":"1995","unstructured":"1. Christiano AM, Suga Y, Greenspan DS, Ogawa H, Uitto J, Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa, J Clin Invest, 1995;95(3):1328-34","journal-title":"J Clin Invest"},{"issue":"6","key":"ref2","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1067\/mjd.2000.106369","article-title":"Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa","volume":"42","author":"J Fine JD, Eady RA, Bauer EA, Briggaman RA, Bruckner-Tuderman L, Christiano A, Heagerty A, Hintner H, Jonkman MF, McGrath J, McGuire J, Moshell A, Shimizu H, Tadini G, Uitto J","year":"2000","unstructured":"2. J Fine JD, Eady RA, Bauer EA, Briggaman RA, Bruckner-Tuderman L, Christiano A, Heagerty A, Hintner H, Jonkman MF, McGrath J, McGuire J, Moshell A, Shimizu H, Tadini G, Uitto J, Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa, J Am Acad Dermatol, 2000;42(6):1051-66","journal-title":"J Am Acad Dermatol"},{"issue":"4","key":"ref3","doi-asserted-by":"publisher","first-page":"450","DOI":"10.1038\/ng0896-450","article-title":"Plectin deficiency results in muscular dystrophy with epidermolysis bullosa","volume":"13","author":"Smith FJ, Eady RA, Leigh IM, McMillan JR, Rugg EL, Kelsell DP","year":"1996","unstructured":"3. Smith FJ, Eady RA, Leigh IM, McMillan JR, Rugg EL, Kelsell DP, Plectin deficiency results in muscular dystrophy with epidermolysis bullosa, Nat Genet, 1996;13(4):450-7","journal-title":"Nat Genet"},{"key":"ref4","first-page":"101","article-title":"Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances and the findings of the National Epidermolysis Bullosa Registry","author":"Fine JD, Bauer EA, McGuire J, Moshell A","year":"1999","unstructured":"4. Fine JD, Bauer EA, McGuire J, Moshell A, Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances and the findings of the National Epidermolysis Bullosa Registry, Baltimore: The Johns Hopkins University Press;, 1999;101-113","journal-title":"Baltimore: The Johns Hopkins University Press;"},{"issue":"4","key":"ref5","doi-asserted-by":"crossref","first-page":"188","DOI":"10.12968\/hmed.2006.67.4.20864","article-title":"Epidermolysis bullosa","volume":"67","author":"McGrath JA, Mellerio JE","year":"2006","unstructured":"5. McGrath JA, Mellerio JE, Epidermolysis bullosa, Br J Hosp Med (Lond), 2006;67(4):188-191","journal-title":"Br J Hosp Med (Lond)"},{"issue":"1","key":"ref6","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1006\/geno.1994.1239","article-title":"Structural organization of the human type VII collagen gene (COL7A1), comprised of more exons than any previously characterized gene","volume":"21","author":"Christiano AM, Hoffman GG, Chung-Honet LC, Lee S, Cheng W, Uitto J","year":"1994","unstructured":"6. Christiano AM, Hoffman GG, Chung-Honet LC, Lee S, Cheng W, Uitto J, Structural organization of the human type VII collagen gene (COL7A1), comprised of more exons than any previously characterized gene, Genomics, 1994;21(1):169-179","journal-title":"Genomics"},{"issue":"33","key":"ref7","doi-asserted-by":"crossref","first-page":"20256","DOI":"10.1016\/S0021-9258(17)31984-1","article-title":"Cloning of human type VII collagen: complete primary sequence of the (alpha 1(VII) chain and identification of intragenic polymorphisms","volume":"269","author":"Christiano AM, Greenspan DS, Lee S, Uitto J","year":"1994","unstructured":"7. Christiano AM, Greenspan DS, Lee S, Uitto J, Cloning of human type VII collagen: complete primary sequence of the (alpha 1(VII) chain and identification of intragenic polymorphisms, J Biol Chem, 1994;269(33):20256-20262","journal-title":"J Biol Chem"},{"issue":"3","key":"ref8","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1136\/jmg.2006.045302","article-title":"Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes","volume":"44","author":"Varki R, Sadowski S, Uitto J, Pfendner E","year":"2007","unstructured":"8. Varki R, Sadowski S, Uitto J, Pfendner E, Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes, J Med Genet, 2007;44(3):181-192","journal-title":"J Med Genet"},{"issue":"4","key":"ref9","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1111\/1523-1747.ep12265460","article-title":"Evaluation of anchoring fibrils and other components of the dermal\u2013epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique","volume":"84","author":"Tidman MJ, Eady RA","year":"1985","unstructured":"9. Tidman MJ, Eady RA, Evaluation of anchoring fibrils and other components of the dermal\u2013epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique, J Invest Dermatol, 1985;84(4):374-377","journal-title":"J Invest Dermatol"},{"issue":"5 Pt 1","key":"ref10","doi-asserted-by":"publisher","first-page":"2109","DOI":"10.1083\/jcb.111.5.2109","article-title":"Epithelial origin of cutaneous anchoring fibrils","volume":"111","author":"Regauer S, Seiler GR, Barrandon Y, Easley KW, Compton CC","year":"1990","unstructured":"10. Regauer S, Seiler GR, Barrandon Y, Easley KW, Compton CC, Epithelial origin of cutaneous anchoring fibrils, J Cell Biol, 1990;111(5 Pt 1):2109-2115","journal-title":"J Cell Biol"},{"issue":"6","key":"ref11","doi-asserted-by":"publisher","first-page":"931","DOI":"10.1016\/j.jaad.2008.02.004","article-title":"The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB","volume":"58","author":"Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L","year":"2008","unstructured":"11. Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB, J Am Acad Dermatol, 2008;58(6):931-950","journal-title":"J Am Acad Dermatol"},{"issue":"3","key":"ref12","doi-asserted-by":"publisher","first-page":"366","DOI":"10.1111\/1523-1747.ep12471830","article-title":"Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression","volume":"100","author":"McGrath JA, Ishida-Yamamoto A, O\u2019Grady A, Leigh IM, Eady RA","year":"1993","unstructured":"12. McGrath JA, Ishida-Yamamoto A, O\u2019Grady A, Leigh IM, Eady RA, Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression, J Invest Dermatol, 1993;100(3):366-372","journal-title":"J Invest Dermatol"},{"issue":"6","key":"ref13","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1111\/1523-1747.ep12277377","article-title":"Epidermolysis bullosa acquisita antigen is synthesized by both human keratinocytes and human dermal fibroblasts","volume":"85","author":"Stanley JR, Rubinstein N, Klaus-Kovtun V","year":"1985","unstructured":"13. Stanley JR, Rubinstein N, Klaus-Kovtun V, Epidermolysis bullosa acquisita antigen is synthesized by both human keratinocytes and human dermal fibroblasts, J Invest Dermatol, 1985;85(6):542-545","journal-title":"J Invest Dermatol"},{"issue":"4","key":"ref14","doi-asserted-by":"publisher","first-page":"450","DOI":"10.1038\/ng0896-450","article-title":"Plectin deficiency results in muscular dystrophy with epidermolysis bullosa","volume":"13","author":"Smith FJ, Eady RA, Leigh IM, McMillan JR, Rugg EL, Kelsell DP","year":"1996","unstructured":"14. Smith FJ, Eady RA, Leigh IM, McMillan JR, Rugg EL, Kelsell DP, Plectin deficiency results in muscular dystrophy with epidermolysis bullosa, Nat Genet, 1996;13(4):450-457","journal-title":"Nat Genet"},{"issue":"33","key":"ref15","doi-asserted-by":"crossref","first-page":"20256","DOI":"10.1016\/S0021-9258(17)31984-1","article-title":"Cloning of human type VII collagen: Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms","volume":"269","author":"Christiano AM, Greenspan DS, Lee S, Uitto J","year":"1994","unstructured":"15. Christiano AM, Greenspan DS, Lee S, Uitto J, Cloning of human type VII collagen: Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms, J Biol Chem, 1994;269(33):20256-20262","journal-title":"J Biol Chem"},{"issue":"5","key":"ref16","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<408::AID-HUMU12>3.0.CO;2-3","article-title":"Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa","volume":"10","author":"Christiano AM, Hoffman GG, Zhang X, Xu Y, Tamai Y","year":"1997","unstructured":"16. Christiano AM, Hoffman GG, Zhang X, Xu Y, Tamai Y, Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa, Hum Mutat, 1997;10(5):408-414","journal-title":"Hum Mutat"},{"issue":"33","key":"ref17","doi-asserted-by":"crossref","first-page":"20256","DOI":"10.1016\/S0021-9258(17)31984-1","article-title":"Cloning of human type VII collagen: Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms","volume":"269","author":"Christiano AM, Greenspan DS, Lee S, Uitto J","year":"1994","unstructured":"17. Christiano AM, Greenspan DS, Lee S, Uitto J, Cloning of human type VII collagen: Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms, J Biol Chem, 1994;269(33):20256-20262","journal-title":"J Biol Chem"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1186\/1471-2350-11-139","article-title":"A prevalent mutation with founder effect in Spanish recessive dystrophic epidermolysis bullosa families","volume":"11","author":"Cuadrado-Corrales N, Sanchez-Jimeno C, Garcia M, Escamez MJ, Illera N","year":"2010","unstructured":"18. Cuadrado-Corrales N, Sanchez-Jimeno C, Garcia M, Escamez MJ, Illera N, A prevalent mutation with founder effect in Spanish recessive dystrophic epidermolysis bullosa families, BMC Med Genet, 2010;11139","journal-title":"BMC Med Genet"},{"issue":"10","key":"ref19","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1007\/s10038-005-0290-4","article-title":"Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa","volume":"50","author":"Sawamura D, Goto M, Yasukawa K, Sato-Matsumura K, Nakamura H, Ito K","year":"2005","unstructured":"19. Sawamura D, Goto M, Yasukawa K, Sato-Matsumura K, Nakamura H, Ito K, Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa, J Hum Genet, 2005;50(10):543-546","journal-title":"J Hum Genet"},{"issue":"5","key":"ref20","doi-asserted-by":"publisher","first-page":"1104","DOI":"10.1111\/j.1365-2133.2011.10230.x","article-title":"Late-onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII","volume":"164","author":"Leverkus M, Ambach A, Hoefeld-Fegeler M, Kohlhase J, Schmidt E","year":"2011","unstructured":"20. Leverkus M, Ambach A, Hoefeld-Fegeler M, Kohlhase J, Schmidt E, Late-onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII, Br J Dermatol, 2011;164(5):1104-1106","journal-title":"Br J Dermatol"},{"issue":"3","key":"ref21","doi-asserted-by":"publisher","first-page":"377","DOI":"10.2353\/jmoldx.2010.090145","article-title":"A novel COL7A1 gene mutation in an Iranian individual suffering dystrophic epidermolysis bullosa","volume":"12","author":"Galehdari H, Mohammadian G, Azmoon S, Salehi B, Pedram M","year":"2010","unstructured":"21. Galehdari H, Mohammadian G, Azmoon S, Salehi B, Pedram M, A novel COL7A1 gene mutation in an Iranian individual suffering dystrophic epidermolysis bullosa, J Mol Diagn, 2010;12(3):377-379","journal-title":"J Mol Diagn"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-3634","article-title":"Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing","volume":"100","author":"Uddin SA, Cesarato N, Humbatova A, Schmidt A, urRehman F, Naeem M","year":"2020","unstructured":"22. Uddin SA, Cesarato N, Humbatova A, Schmidt A, urRehman F, Naeem M, Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing, Acta Derm Venereol, 2020;100","journal-title":"Acta Derm Venereol"},{"key":"ref23","doi-asserted-by":"publisher","first-page":"574","DOI":"10.1111\/bjd.18128","article-title":"Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa","volume":"182","author":"Has C, Liu L, Bolling MC, Charlesworth AV, El Hachem M, Esc\u00e1mez MJ","year":"2020","unstructured":"23. Has C, Liu L, Bolling MC, Charlesworth AV, El Hachem M, Esc\u00e1mez MJ, Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa, Br J Dermatol, 2020;182574-592","journal-title":"Br J Dermatol"},{"key":"ref24","doi-asserted-by":"publisher","first-page":"933","DOI":"10.2147\/CCID.S232547","article-title":"From Clinical Phenotype to Genotypic Modelling: Incidence and Prevalence of Recessive Dystrophic Epidermolysis Bullosa (RDEB)","volume":"12","author":"Eichstadt S, Tang JY, Solis DC, Siprashvili Z, Marinkovich MP, Whitehead N","year":"2019","unstructured":"24. Eichstadt S, Tang JY, Solis DC, Siprashvili Z, Marinkovich MP, Whitehead N, From Clinical Phenotype to Genotypic Modelling: Incidence and Prevalence of Recessive Dystrophic Epidermolysis Bullosa (RDEB), Clin Cosmet Investig Dermatol, 2019;12933-942","journal-title":"Clin Cosmet Investig Dermatol"},{"key":"ref25","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1159\/000504210","article-title":"Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa","volume":"10","author":"Venti V, Scalia B, Sauna A, Nasca MR, Smilari P, Pratic\u00f2 AD","year":"2020","unstructured":"25. Venti V, Scalia B, Sauna A, Nasca MR, Smilari P, Pratic\u00f2 AD, Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa, Mol Syndromol, 2020;10332-338","journal-title":"Mol Syndromol"},{"key":"ref26","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1016\/j.matbio.2018.11.006","article-title":"Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency","volume":"81","author":"Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Pajouhanfar S, Baghdadi T","year":"2019","unstructured":"26. Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Pajouhanfar S, Baghdadi T, Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency, Matrix Biol, 2019;8191-106","journal-title":"Matrix Biol"},{"key":"ref27","doi-asserted-by":"publisher","first-page":"1125","DOI":"10.1111\/ddg.12683","article-title":"Hereditary epidermolysis bullosa","volume":"13","author":"Laimer M, Prodinger C, Bauer JW","year":"2015","unstructured":"27. Laimer M, Prodinger C, Bauer JW, Hereditary epidermolysis bullosa, J Dtsch Dermatol Ges, 2015;131125-1133","journal-title":"J Dtsch Dermatol Ges"}],"container-title":["Journal of Medicine and Life"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/medandlife.org\/all-issues\/2024\/issue-9-2024\/original-article-issue-9-2024\/a-homozygous-nonsense-mutation-identified-in-in-a-family-with-autosomal-recessive-dystrophic-epidermolysis-bullosa\/","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T13:01:14Z","timestamp":1737723674000},"score":1,"resource":{"primary":{"URL":"https:\/\/medandlife.org\/all-issues\/2024\/issue-9-2024\/original-article-issue-9-2024\/a-homozygous-nonsense-mutation-identified-in-in-a-family-with-autosomal-recessive-dystrophic-epidermolysis-bullosa\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9]]},"references-count":27,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["JMedLife-17-892"],"URL":"https:\/\/doi.org\/10.25122\/jml-2024-0090","relation":{},"ISSN":["1844-3117"],"issn-type":[{"type":"electronic","value":"1844-3117"}],"subject":[],"published":{"date-parts":[[2024,9]]}}}