{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T05:04:56Z","timestamp":1793163896537,"version":"4.5.0"},"reference-count":20,"publisher":"American Society of Hematology","issue":"4","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2004,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>A 4-base deletion has been identified in the coding region of the gene for gastric intrinsic factor (IF) in an 11-year-old girl with severe anemia and cobalamin (Cbl) deficiency. The bone marrow showed frank megaloblastic morphology, and the Schilling test indicated a failure to absorb Cbl that was corrected by coadministration of IF. Pentagastrin administration induced acid secretion, but the gastric juice lacked IF as determined by CbI binding, by fractionation of protein-bound CbI, and by immunoprecipitation with anti-IF antiserum. Individual exons were amplified by the polymerase chain reaction by using primers to the flanking intronic regions, and the nucleotide sequence analysis identified a 4-base deletion (c183_186delGAAT) spanning positions 104 to 107 in exon 2, resulting in premature termination of translation. This mutation also eliminates a site for Bst XI endonuclease and introduces a site for BsaBI for identifying this deletion in hereditary IF deficiency.<\/jats:p>","DOI":"10.1182\/blood-2003-07-2239","type":"journal-article","created":{"date-parts":[[2003,10,28]],"date-time":"2003-10-28T07:45:28Z","timestamp":1067327128000},"page":"1515-1517","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":43,"title":["Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency"],"prefix":"10.1182","volume":"103","author":[{"given":"Fawwaz","family":"Yassin","sequence":"first","affiliation":[{"name":"From the Division of Hematology\/Oncology, Department of Medicine, State University of New York (SUNY) Downstate Medical Center, Brooklyn; Division of Hematology\/Oncology, Department of Pediatrics, SUNY Downstate Medical Center; Brooklyn; and the Division of Gastroenterology, Department of Medicine, Washington University School of Medicine, St Louis, MO."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheldon P.","family":"Rothenberg","sequence":"additional","affiliation":[{"name":"From the Division of Hematology\/Oncology, Department of Medicine, State University of New York (SUNY) Downstate Medical Center, Brooklyn; Division of Hematology\/Oncology, Department of Pediatrics, SUNY Downstate Medical Center; Brooklyn; and the Division of Gastroenterology, Department of Medicine, Washington University School of Medicine, St Louis, MO."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sreedhar","family":"Rao","sequence":"additional","affiliation":[{"name":"From the Division of Hematology\/Oncology, Department of Medicine, State University of New York (SUNY) Downstate Medical Center, Brooklyn; Division of Hematology\/Oncology, Department of Pediatrics, SUNY Downstate Medical Center; Brooklyn; and the Division of Gastroenterology, Department of Medicine, Washington University School of Medicine, St Louis, MO."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marilyn M.","family":"Gordon","sequence":"additional","affiliation":[{"name":"From the Division of Hematology\/Oncology, Department of Medicine, State University of New York (SUNY) Downstate Medical Center, Brooklyn; Division of Hematology\/Oncology, Department of Pediatrics, SUNY Downstate Medical Center; Brooklyn; and the Division of Gastroenterology, Department of Medicine, Washington University School of Medicine, St Louis, MO."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David H.","family":"Alpers","sequence":"additional","affiliation":[{"name":"From the Division of Hematology\/Oncology, Department of Medicine, State University of New York (SUNY) Downstate Medical Center, Brooklyn; Division of Hematology\/Oncology, Department of Pediatrics, SUNY Downstate Medical Center; Brooklyn; and the Division of Gastroenterology, Department of Medicine, Washington University School of Medicine, St Louis, MO."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward V.","family":"Quadros","sequence":"additional","affiliation":[{"name":"From the Division of Hematology\/Oncology, Department of Medicine, State University of New York (SUNY) Downstate Medical Center, Brooklyn; Division of Hematology\/Oncology, Department of Pediatrics, SUNY Downstate Medical Center; Brooklyn; and the Division of Gastroenterology, Department of Medicine, Washington University School of Medicine, St Louis, MO."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"key":"2020021223005907800_REF1","doi-asserted-by":"crossref","unstructured":"Kapadia CR, Donaldson RM Jr. Disorders of cobalamin (vitamin B12) absorption and transport. Ann Rev Med. 1985;36: 93-110.","DOI":"10.1146\/annurev.me.36.020185.000521"},{"key":"2020021223005907800_REF2","doi-asserted-by":"crossref","unstructured":"Mackenzie IL, Donaldson RM Jr, Trier JS, Mathan VI. Ileal mucosa in ileal selective malabsorption. N Engl J Med. 1972;286: 1021-1025.","DOI":"10.1056\/NEJM197205112861902"},{"key":"2020021223005907800_REF3","unstructured":"Rothenberg SP, Quadros EV, Regec A. Transcobalamin II. In: Bannerjee R, ed. Chemistry and Biochemistry of Vitamin B12. New York, NY: Wiley; 1999: 441-473."},{"key":"2020021223005907800_REF4","doi-asserted-by":"crossref","unstructured":"Castle WB. Present status of the etiology of pernicious anemia. Ann Intern Med. 1951;34: 1093-1106.","DOI":"10.7326\/0003-4819-34-5-1093"},{"key":"2020021223005907800_REF5","doi-asserted-by":"crossref","unstructured":"Spurling CL, Sacks MS, Jiji RM. Juvenile pernicious anemia. N Engl J Med. 1964;271: 995-1003.","DOI":"10.1056\/NEJM196411052711907"},{"key":"2020021223005907800_REF6","doi-asserted-by":"crossref","unstructured":"Waters AH, Murphy MEB. Familial juvenile pernicious anemia: a study of the hereditary basis of pernicious anemia. Br J Haematol. 1963;9: 1-12.","DOI":"10.1111\/j.1365-2141.1963.tb05435.x"},{"key":"2020021223005907800_REF7","doi-asserted-by":"crossref","unstructured":"Miller DR, Bloom GE, Streiff RR, LoBuglio AF, Diamond LK. Juvenile \u201ccongenital\u201d pernicious anemia. N Engl J Med. 1966;3: 978-983.","DOI":"10.1056\/NEJM196611032751802"},{"key":"2020021223005907800_REF8","doi-asserted-by":"crossref","unstructured":"Hewitt JE, Gordon MM, Taggart RT, Mohandas TK, Alpers DH. Human gastric intrinsic factor: characterization of cDNA and genomic clones and localization to human chromosome 11. Genomics. 1991;10: 432-440.","DOI":"10.1016\/0888-7543(91)90329-D"},{"key":"2020021223005907800_REF9","doi-asserted-by":"crossref","unstructured":"Fernandes M, Poirier C, Lespinasse F, Carle GF. The mouse homologs of human GIF, DDB1 and CFL1 genes are located on chromosome 19. Mamm Genome. 1998;9: 339.","DOI":"10.1007\/s003359900763"},{"key":"2020021223005907800_REF10","doi-asserted-by":"crossref","unstructured":"Levine JS, Allen RH. Intrinsic factor within parietal cells of patients with juvenile pernicious anemia: a retrospective immunohistochemical study. Gastroenterology. 1985;88: 1132-1136.","DOI":"10.1016\/S0016-5085(85)80071-8"},{"key":"2020021223005907800_REF11","doi-asserted-by":"crossref","unstructured":"McIntyre OR, Sullivan LW, Jeffries GH, Silber RH. Pernicious anemia in childhood. N Engl J Med. 1965;272: 981-986.","DOI":"10.1056\/NEJM196505132721901"},{"key":"2020021223005907800_REF12","doi-asserted-by":"crossref","unstructured":"Yang Y, Ducos R, Rosenberg AJ, et al. Cobalamin malabsorption in three siblings due to abnormal intrinsic factor that is markedly susceptible to acid and proteolysis. J Clin Invest. 1985;76: 2057-2065.","DOI":"10.1172\/JCI112208"},{"key":"2020021223005907800_REF13","unstructured":"Rothenberg SP, Quadros EV, Straus EW, Kapelner S. An abnormal intrinsic factor molecule: a new cause of pernicious anemia [abstract]. Blood. 1985; 64: 41a."},{"key":"2020021223005907800_REF14","doi-asserted-by":"crossref","unstructured":"Katz M, Lee SK, Cooper B. Vitamin B12 malabsorption due to a biologically inert intrinsic factor. N Engl J Med. 1972;287: 425-429.","DOI":"10.1056\/NEJM197208312870902"},{"key":"2020021223005907800_REF15","unstructured":"Schilling, RF. Intrinsic factor studies II. The effect of gastric juice on the urinary excretion of radioactivity after oral administration of radioactive vitamin B12. J Lab Clin Med. 1953;42: 860-866."},{"key":"2020021223005907800_REF16","doi-asserted-by":"crossref","unstructured":"Gottlieb C, Lau K-S, Wasserman LR, Herbert V. Rapid charcoal assay for intrinsic factor (IF), gastric juice unsaturated B12 binding capacity, antibody to IF and serum unsaturated B12 binding capacity. Blood. 1965;25: 875-884.","DOI":"10.1182\/blood.V25.6.875.875"},{"key":"2020021223005907800_REF17","doi-asserted-by":"crossref","unstructured":"Begley JA, Trachtenberg A. An assay for intrinsic factor based on blocking of the R-binder of gastric juice by cobinamide. Blood. 1979;53: 788-793.","DOI":"10.1182\/blood.V53.4.788.788"},{"key":"2020021223005907800_REF18","doi-asserted-by":"crossref","unstructured":"Quadros EV, Rothenberg SP, Jaffe EA. Human endothelial cells synthesize and secrete functional transcobalamin II. Am J Physiol. 1989;256: C296-C303.","DOI":"10.1152\/ajpcell.1989.256.2.C296"},{"key":"2020021223005907800_REF19","doi-asserted-by":"crossref","unstructured":"Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain terminating inhibitors. Proc Natl Acad Sci U S A. 1977;74: 5463-5467.","DOI":"10.1073\/pnas.74.12.5463"},{"key":"2020021223005907800_REF20","unstructured":"Carmel R. Gastric juice in congenital pernicious anemia contains no immunoreactive intrinsic factor molecule: study of three kindreds with variable ages at presentation, including a patient first diagnosed in adulthood. Am J Hum Genet. 1983;35: 67-77."}],"container-title":["Blood"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/ashpublications.org\/blood\/article-pdf\/103\/4\/1515\/1695134\/zh800404001515.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/ashpublications.org\/blood\/article-pdf\/103\/4\/1515\/1695134\/zh800404001515.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,2,13]],"date-time":"2020-02-13T04:01:11Z","timestamp":1581566471000},"score":1,"resource":{"primary":{"URL":"https:\/\/ashpublications.org\/blood\/article\/103\/4\/1515\/18094\/Identification-of-a-4base-deletion-in-the-gene-in"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,2,15]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2004,2,15]]}},"URL":"https:\/\/doi.org\/10.1182\/blood-2003-07-2239","relation":{},"ISSN":["0006-4971","1528-0020"],"issn-type":[{"value":"0006-4971","type":"print"},{"value":"1528-0020","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,2,15]]}}}