Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia
β Scribed by Clare L. Marchant; F. Richard Ellis; P. Jane Halsall; Philip M. Hopkins; Rachel L. Robinson
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 74 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0148-639X
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
RT-PCR and direct sequence analyses were used to define mutations in the cystathionine b -synthase (CBS) gene in two unrelated male patients with vitamin B6 nonresponsive homocystinuria. Both patients were compound heterozygotes for CBS alleles containing point mutations. One patient had a maternall
Homocystinuria due to cystathionine Ξ²-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