Á lódáil...

Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.

Deficiency of glycogen phosphorylase in the liver gives rise to glycogen-storage disease type VI (Hers disease; MIM 232700). We report the identification of the first mutations in PYGL, the gene encoding the liver isoform of glycogen phosphorylase, in three patients with Hers disease. These are two...

Cur síos iomlán

Na minha lista:
Sonraí Bibleagrafaíochta
Main Authors: Burwinkel, B, Bakker, H D, Herschkovitz, E, Moses, S W, Shin, Y S, Kilimann, M W
Formáid: Artigo
Teanga:Inglês
Foilsithe: 1998
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377030/
https://ncbi.nlm.nih.gov/pubmed/9529348
Clibeanna: Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!