Homocystinuria is an autosomal recessive disease most commonly caused by mutations in cystathionine beta-synthase (CBS). In this study we present the mutation analysis of 36 Colombian individuals from 10 unrelated kindred, with 11 individuals clinically classified as homocystinuric. Mutation analysi
β¦ LIBER β¦
Low Prevalence of p.G352fsdelG Mutation in Phenylketonuria Patients from Morocco
β Scribed by Lamzouri, Afaf; Ratbi, Ilham; Laarabi, Fatima Z.; Barkat, Amina; Sefiani, Abdelaziz
- Book ID
- 120248193
- Publisher
- Mary Ann Liebert
- Year
- 2012
- Tongue
- English
- Weight
- 134 KB
- Volume
- 16
- Category
- Article
- ISSN
- 1945-0265
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