Homocystinuria due to cystathionine ฮฒ-synthase (CBS) deficiency is an inherited disorder of homocysteine transsulfuration, which manifests by neurological, vascular and connective tissue involvement. So far, 130 pathogenic mutations have been recognized in the CBS gene. We examined 10 independent al
Homocystinuria in the Arab population of Israel: Identification of two novel mutations using DGGE analysis
โ Scribed by Galia Gat-Yablonski; Hanna Mandel; Brian Fowler; Omar Taleb; Ben-Ami Sela
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 46 KB
- Volume
- 16
- Category
- Article
- ISSN
- 1059-7794
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