与 ACTG2 串联碱基置换相关的内脏肌病的表型扩展。
Mesh : Actins / chemistry genetics Adolescent Adult Amino Acid Sequence Child Duodenum / abnormalities Female Humans Intestinal Pseudo-Obstruction / diagnosis genetics Male Middle Aged Molecular Sequence Data Mutation, Missense Pedigree Phenotype Urinary Bladder / abnormalities
来 源:
DOI:10.1038/ejhg.2015.49
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