{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T01:54:09Z","timestamp":1791165249092,"version":"4.1.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2005,12,22]],"date-time":"2005-12-22T00:00:00Z","timestamp":1135209600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2006,2]]},"DOI":"10.1007\/s10038-005-0328-7","type":"journal-article","created":{"date-parts":[[2005,12,21]],"date-time":"2005-12-21T09:50:49Z","timestamp":1135158649000},"page":"92-97","source":"Crossref","is-referenced-by-count":13,"title":["A novel Wiskott-Aldrich syndrome protein (WASP) complex mutation identified in a WAS patient results in an aberrant product at the C-terminus from two transcripts with unusual polyA signals"],"prefix":"10.1038","volume":"51","author":[{"given":"Nuria","family":"Andreu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maricruz","family":"Garc\u00eda-Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor","family":"Volpini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Frecha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio J.","family":"Molina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gumersindo","family":"Fontan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Fillat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2005,12,22]]},"reference":[{"key":"328_CR1","doi-asserted-by":"publisher","first-page":"590","DOI":"10.1007\/s10038-003-0083-6","volume":"48","author":"Andreu","year":"2003","unstructured":"Andreu N, Carreras C, Prieto F, Estivill X, Volpini V, Fillat C (2003) Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome. J Hum Genet 48:590\u2013593","journal-title":"J Hum Genet"},{"key":"328_CR2","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1016\/S1079-9796(03)00168-2","volume":"31","author":"Andreu","year":"2003","unstructured":"Andreu N, Pujol-Moix N, Martinez-Lostao L, Oset M, Muniz-Diaz E, Estivill X, Volpini V, Fillat C (2003) Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation. Blood Cells Mol Dis 31:332\u2013337","journal-title":"Blood Cells Mol Dis"},{"key":"328_CR3","doi-asserted-by":"publisher","first-page":"1001","DOI":"10.1101\/gr.10.7.1001","volume":"10","author":"E Beaudoing","year":"2000","unstructured":"Beaudoing E, Freier S, Wyatt JR, Claverie JM, Gautheret D (2000) Patterns of variant polyadenylation signal usage in human genes. Genome Res 10:1001\u20131010","journal-title":"Genome Res"},{"key":"328_CR4","doi-asserted-by":"publisher","first-page":"603","DOI":"10.1046\/j.1365-2141.1998.00756.x","volume":"101","author":"PM Brickell","year":"1998","unstructured":"Brickell PM, Katz DR, Thrasher AJ (1998) Wiskott-Aldrich syndrome: current research concepts. Br J Haematol 101:603\u2013608","journal-title":"Br J Haematol"},{"key":"328_CR5","doi-asserted-by":"crossref","first-page":"2755","DOI":"10.1101\/gad.11.21.2755","volume":"11","author":"DF Colgan","year":"1997","unstructured":"Colgan DF, Manley JL (1997) Mechanism and regulation of mRNA polyadenylation. Genes Dev 11:2755\u20132766","journal-title":"Genes Dev"},{"key":"328_CR6","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1016\/0092-8674(94)90528-2","volume":"78","author":"JM Derry","year":"1994","unstructured":"Derry JM, Ochs HD, Francke U (1994) Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 78:635\u2013644","journal-title":"Cell"},{"key":"328_CR7","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1038\/85886","volume":"27","author":"K Devriendt","year":"2001","unstructured":"Devriendt K, Kim AS, Mathijs G, Frints SG, Schwartz M, Van Den Oord JJ, Verhoef GE, Boogaerts MA, Fryns JP, You D, Rosen MK, Vandenberghe P (2001) Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet 27:313\u2013317","journal-title":"Nat Genet"},{"key":"328_CR8","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1002\/ajmg.1228","volume":"100","author":"C Fillat","year":"2001","unstructured":"Fillat C, Espanol T, Oset M, Ferrando M, Estivill X, Volpini V (2001) Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome. Am J Med Genet 100:116\u2013121","journal-title":"Am J Med Genet"},{"key":"328_CR9","first-page":"28","volume-title":"PCR protocols: a guide to methods and applications","author":"MA Frohman","year":"1990","unstructured":"Frohman MA (1990) RACE: Rapid amplification of cDNA ends. In: Innis MAGD, Sninsky JJ, White TJ (eds) PCR protocols: a guide to methods and applications. Academic, New York, pp 28\u201338"},{"key":"328_CR10","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/S0167-4781(00)00199-8","volume":"1493","author":"TL Hagemann","year":"2000","unstructured":"Hagemann TL, Mares D, Kwan S (2000) Gene regulation of Wiskott-Aldrich syndrome protein and the human homolog of the Drosophila Su(var)3-9: WASP and SUV39H1, two adjacent genes at Xp11.23. Biochim Biophys Acta 1493:368\u2013372","journal-title":"Biochim Biophys Acta"},{"key":"328_CR11","doi-asserted-by":"publisher","first-page":"456","DOI":"10.1182\/blood-2003-05-1480","volume":"103","author":"K Imai","year":"2004","unstructured":"Imai K, Morio T, Zhu Y, Jin Y, Itoh S, Kajiwara M, Yata J, Mizutani S, Ochs HD, Nonoyama S (2004) Clinical course of patients with WASP gene mutations. Blood 103:456\u2013464","journal-title":"Blood"},{"key":"328_CR12","doi-asserted-by":"publisher","first-page":"1163","DOI":"10.1046\/j.1365-2141.2002.03740.x","volume":"118","author":"H Inoue","year":"2002","unstructured":"Inoue H, Kurosawa H, Nonoyama S, Imai K, Kumazaki H, Matsunaga T, Sato Y, Sugita K, Eguchi M (2002) X-linked thrombocytopenia in a girl. Br J Haematol 118:1163\u20131165","journal-title":"Br J Haematol"},{"key":"328_CR13","doi-asserted-by":"publisher","first-page":"4010","DOI":"10.1182\/blood-2003-05-1592","volume":"104","author":"Jin","year":"2004","unstructured":"Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, Gandellini F, Stewart DM, Zhu Q, Nelson DL, Notarangelo LD, Ochs HD (2004) Mutations of the Wiskott-Aldrich syndrome protein (WASP): hotspots, effect on transcription, and translation and phenotype\/genotype correlation. Blood 104:4010\u20134019","journal-title":"Blood"},{"key":"328_CR14","doi-asserted-by":"publisher","first-page":"2763","DOI":"10.1182\/blood-2002-02-0388","volume":"100","author":"MI Lutskiy","year":"2002","unstructured":"Lutskiy MI, Sasahara Y, Kenney DM, Rosen FS, Remold-O\u2019Donnell E (2002) Wiskott-Aldrich syndrome in a female. Blood 100:2763\u20132768","journal-title":"Blood"},{"key":"328_CR15","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1038\/sj.gt.3302457","volume":"12","author":"F Martin","year":"2005","unstructured":"Martin F, Toscano MG, Blundell M, Frecha C, Srivastava GK, Santamaria M, Thrasher AJ, Molina IJ (2005) Lentiviral vectors transcriptionally targeted to hematopoietic cells by WASP gene proximal promoter sequences. Gene Ther 12:715\u2013723","journal-title":"Gene Ther"},{"key":"328_CR16","unstructured":"Ochs HD, Rosen FS (1999) Primary immunodeficiency diseases. In: Ochs HDSC, Puck JM (eds) Primary immunodeficiency diseases: a molecular and genetic approach, vol 24. Oxford University Press, Oxford, pp 292\u2013305"},{"key":"328_CR17","doi-asserted-by":"publisher","first-page":"2361","DOI":"10.1007\/s00018-004-4086-z","volume":"61","author":"JS Orange","year":"2004","unstructured":"Orange JS, Stone KD, Turvey SE, Krzewski K (2004) The Wiskott-Aldrich syndrome. Cell Mol Life Sci 61:2361\u20132385","journal-title":"Cell Mol Life Sci"},{"key":"328_CR18","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1056\/NEJM199801293380504","volume":"338","author":"O Parolini","year":"1998","unstructured":"Parolini O, Ressmann G, Haas OA, Pawlowsky J, Gadner H, Knapp W, Holter W (1998) X-linked Wiskott-Aldrich syndrome in a girl. N Engl J Med 338:291\u2013295","journal-title":"N Engl J Med"},{"key":"328_CR19","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1007\/s004390050162","volume":"98","author":"D Schindelhauer","year":"1996","unstructured":"Schindelhauer D, Weiss M, Hellebrand H, Golla A, Hergersberg M, Seger R, Belohradsky BH, Meindl A (1996) Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product. Hum Genet 98:68\u201376","journal-title":"Hum Genet"},{"key":"328_CR20","doi-asserted-by":"publisher","first-page":"905","DOI":"10.1146\/annurev.immunol.17.1.905","volume":"17","author":"SB Snapper","year":"1999","unstructured":"Snapper SB, Rosen FS (1999) The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization. Annu Rev Immunol 17:905\u2013929","journal-title":"Annu Rev Immunol"},{"key":"328_CR21","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1128\/MMBR.63.2.405-445.1999","volume":"63","author":"J Zhao","year":"1999","unstructured":"Zhao J, Hyman L, Moore C (1999) Formation of mRNA 3\u2032 ends in eukaryotes: mechanism, regulation, and interrelationships with other steps in mRNA synthesis. Microbiol Mol Biol Rev 63:405\u2013445","journal-title":"Microbiol Mol Biol Rev"},{"key":"328_CR22","doi-asserted-by":"crossref","first-page":"3797","DOI":"10.1182\/blood.V86.10.3797.bloodjournal86103797","volume":"86","author":"Q Zhu","year":"1995","unstructured":"Zhu Q, Zhang M, Blaese RM, Derry JM, Junker A, Francke U, Chen SH, Ochs HD (1995) The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. Blood 86:3797\u20133804","journal-title":"Blood"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg200614.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200614","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200614.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T19:34:43Z","timestamp":1638387283000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg200614"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,12,22]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2006,2]]}},"alternative-id":["328"],"URL":"https:\/\/doi.org\/10.1007\/s10038-005-0328-7","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,12,22]]}}}