McArdle disease presenting as abnormal liver function: biochemical, anatomical and genetic characterisation in the first genetically confirmed Chinese family with a novel splicing variant

Autor:	Chor Kwan Ching, Y K Chong, Ka Tai Loo, Kelvin Pak Kin Cheung, Nike Kwai Cheung Lau
Rok vydání:	2021
Předmět:	Genetics MCARDLE DISEASE business.industry RNA splicing Medicine Abnormal liver function Chinese family business Pathology and Forensic Medicine
Zdroj:	Pathology. 53:670-673
ISSN:	0031-3025
DOI:	10.1016/j.pathol.2020.09.019
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::42658f61e43da10f3dd7a3e6610dce3d https://doi.org/10.1016/j.pathol.2020.09.019 Zobrazit plný text záznamu Full Text from ScienceDirect