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Single nucleotide substitutions have been identified in aldolase, triosephosphate isomerase, glucose 6\u2010phosphate dehydrogenase, and adenylate kinase variants by the cloning and nucleotide sequence of the patients' genes. Up to now, all of the enzyme\u2010deficient variants which have been investigated have been caused by point mutations. An exception is a hemolytic anemia secondary to increased adenosine deaminase (ADA) activity. Red cell ADA activity increases on the order of a hundred\u2010fold in affected individuals. The basic abnormality appears to result from overproduction of structurally normal enzyme due to abnormal transcriptional or translational efficiency.<\/jats:p>","DOI":"10.1002\/ajh.2830340412","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T12:12:20Z","timestamp":1172059940000},"page":"301-310","source":"Crossref","is-referenced-by-count":20,"title":["Recent progress in the molecular genetic analysis of erythroenzymopathy"],"prefix":"10.1002","volume":"34","author":[{"given":"Hisaichi","family":"Fujii","sequence":"first","affiliation":[]},{"given":"Shiro","family":"Miwa","sequence":"additional","affiliation":[]}],"member":"311","published-online":{"date-parts":[[2006,7,11]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"crossref","first-page":"7837","DOI":"10.1016\/S0021-9258(18)83118-0","article-title":"Isolation, characterization, and structure of a mutant 89 Arg \u2192 Cys bisphosphoglycerate mutase: Implication of the active site in the mutation","volume":"264","author":"Rosa R","year":"1989","journal-title":"J Biol Chem"},{"key":"e_1_2_1_3_2","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1016\/S0021-9258(19)45723-2","article-title":"Human phosphoglycerate kinase. 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