A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan

Pompe disease is an autosomal recessive disorder caused by acid α-glucosidase (GAA) deficiency, which results in the accumulation of glycogen in lysosomes in multiple tissues, including cardiac, skeletal, and smooth muscle cells. Thus far, 558 sequence variants of the GAA gene have been published in...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Mol Genet Metab Rep
Huvudupphovsmän: Fukuhara, Yasuyuki, Fuji, Naoko, Yamazaki, Narutoshi, Hirakiyama, Asami, Kamioka, Tetsuharu, Seo, Joo-Hyun, Mashima, Ryuichi, Kosuga, Motomichi, Okuyama, Torayuki
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2017
Ämnen:
Research Paper
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5671405/
https://ncbi.nlm.nih.gov/pubmed/29124014
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.10.009
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk