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In all 3 patients, genomic DNA directly sequenced after amplification by the polymerase chain reaction exhibited the point mutation TPI<jats:sup>315C<\/jats:sup> amino acid 104 Glu\u2192Asp. Although other mutations known to cause TPI deficiency have been restricted to single families, the amino acid 104 defect has now been described in nine apparently unrelated families throughout the world and is clearly the most frequently occurring form of the disorder. The basis of the repetitive occurrence of this mutation remains unexplained.<\/jats:p>","DOI":"10.1002\/ajh.2830500407","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T14:25:48Z","timestamp":1172067948000},"page":"263-268","source":"Crossref","is-referenced-by-count":27,"title":["Triosephosphate isomerase deficiency: Repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families"],"prefix":"10.1002","volume":"50","author":[{"given":"Arthur","family":"Schneider","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beryl","family":"Westwood","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Yim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josef","family":"Prchal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roger","family":"Berkow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Labotka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajasekharan","family":"Warrier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ernest","family":"Beutler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,11]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196502042720503"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(66)90004-0"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.5.7.1694"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.20.7903"},{"key":"e_1_2_1_6_2","first-page":"40","article-title":"New case of codon 104 (Glu \u2192 Asp) mutation in homozygous triose phosphate isomerase deficiency and possible prenatal diagnosis of this disease","volume":"72","author":"Elouet JF","year":"1988","journal-title":"Blood [Suppl]"},{"key":"e_1_2_1_7_2","first-page":"232","article-title":"Relation between genetic defect, altered protein structure, and enzyme function in triose\u2010phosphate isomerase (TPI) deficiency","volume":"151","author":"Neubauer BA","year":"1992","journal-title":"Eur J Pediatr"},{"key":"e_1_2_1_8_2","first-page":"1260","article-title":"Human triosephosphate isomerase deficiency resulting from mutation of Phe\u2010240","volume":"52","author":"Chang M\u2010L","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb03955.x"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02265287"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.8.2.802"},{"key":"e_1_2_1_12_2","first-page":"48","volume-title":"Red Cell Metabolism: A Manual of Biochemical Methods","author":"Beutler E","year":"1984"},{"key":"e_1_2_1_13_2","doi-asserted-by":"crossref","first-page":"4145","DOI":"10.1016\/S0021-9258(20)64298-3","article-title":"DNA sequence abnormalities of human glucose\u20106\u2010phosphate dehydrogenase variants","volume":"266","author":"Beutler E","year":"1991","journal-title":"J Biol Chem"},{"key":"e_1_2_1_14_2","unstructured":"BelgraderPBoyerTDaarIChengJNesicD MaquatL:H. sapiens TPI1 gene for triosephosphate isomerase. 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