𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Multiple mutations in the GALC gene in a patient with adult-onset krabbe disease

✍ Scribed by Paola Luzi; Mohammad A. Rafi; Dr. David A. Wenger


Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
377 KB
Volume
40
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Adult-onset Krabbe's disease in siblings
✍ Gary L. Bernardini; Daniel G. Herrera; Debbie Carson Rn; Rita DeGasoperi; Miguel πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 465 KB πŸ‘ 2 views

## Abstract Krabbe's disease or globoid cell leukodystrophy is a rare demyelinating disorder of the central and peripheral nervous systems, the diagnosis of which is based on clinical findings and the determination of low to absent functional activiry of athe enzyme β‐galactocerebrosidase. We repor

Missense mutations in the cystic fibrosi
✍ Conxi LΓ‘zaro; Rafael de Cid; Jordi Sunyer; Joan Soriano; Javier GimΓ©nez; MΓ³nica πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 293 KB πŸ‘ 2 views

Asthma is a complex genetic disorder that affects 5% of adults and 10% of children worldwide. The complete characterization of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified missense mutations in 15% of 144 unrelated adult patients with asthma, but in none of 41 subje

A missense mutation W797R in the myophos
✍ Juan C. Rubio; Miguel A. MartΓ­n; Yolanda Campos; Raffaella Auciello; Ana Cabello πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 116 KB πŸ‘ 1 views

We identified a novel missense mutation in the myophosphorylase gene (PYGM) in a Spanish patient with McArdle's disease. This homozygous T-to-C transition results in the replacement of a highly conserved tryptophan at amino acid position (aa) 797 with an arginine in the C-terminal domain of the PYGM