Nature

General Cystic Fibrosis Mutations Are Usually Missense Mutations Affecting Two Specific Protein Domains and Associated with a Specific RFLP Marker Haplotype

Cystic fibrosis (CF) is an autosomal recessive disease due to a deleterious mutation in a chloride channel gene (CFTR = CF transmembrane conductance regulator), located on chromosome 7. From a ...
Nature

Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey

Glycogen storage disease type III (GSD III; MIM #232400) is an autosomal recessive inherited disorder caused by deficiency in the glycogen debranching enzyme, a key enzyme in the degradation of ...