Author:
Quental S.,Martins E.,Vilarinho L.,Amorim A.,João Prata M.
Subject
Genetics(clinical),Genetics
Reference15 articles.
1. Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN (2003) Translocation and gross deletion breakpoints in human inherited disease and cancer I: nucleotide composition and recombination-associated motifs. Hum Mutat 22: 229–244. doi: 10.1002/humu.10254 .
2. Chevalier-Porst F, Souche G, Bozon D (2005) Identification and characterization of three large deletions and a deletion/polymorphism in the CFTR gene. Hum Mutat 25: 504–510. doi: 10.1002/humu.9335 .
3. Chi CS, Tsai CR, Chen LH, et al (2003) Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination. Eur J Hum Genet 11: 931–936. doi: 10.1038/sj.ejhg.5201069 .
4. Chuang DT, Shih VE (2001) Maple syrup urine disease (branched-chain ketoaciduria). In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 1971–2006.
5. Chuang JL, Coz RP, Chuang DT (1997) E2 Transacylase-deficient (TypeII) maple syrup urine disease aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype. J Clin Invest 100: 736–744. doi: 10.1172/JCI119586 .
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