Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib

BACKGROUND: Molecular techniques are fundamental for establishing an accurate diagnosis and therapeutic approach of glycogen storage diseases (GSDs). We aimed to evaluate SLC37A4 mutation spectrum in Korean GSD Ib patients. METHODS: Nine Korean patients from eight unrelated families with GSD Ib were...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Ann Lab Med
Egile Nagusiak: Choi, Rihwa, Park, Hyung-Doo, Ko, Jung Min, Lee, Jeongho, Lee, Dong Hwan, Hong, Suk Jin, Ki, Chang-Seok, Lee, Soo-Youn, Kim, Jong-Won, Song, Junghan, Choe, Yon Ho
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The Korean Society for Laboratory Medicine 2017
Gaiak:
Original Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5339099/
https://ncbi.nlm.nih.gov/pubmed/28224773
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2017.37.3.261
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