慢性假性肠梗阻中的显性 MYH11 因果变异的鉴定 : 全外显子组测序的结果。
关键词: MYH11 Chronic Intestinal Pseudo-Obstruction exome-sequencing genetics
Mesh : Abnormalities, Multiple Adolescent Adult Aged Child Child, Preschool Female Genetic Testing Genetic Variation / genetics Heterozygote Humans Infant Infant, Newborn Intestinal Pseudo-Obstruction / genetics pathology Male Middle Aged Mutation / genetics Myosin Heavy Chains / genetics Whole Exome Sequencing Young Adult
来 源:
DOI:10.1111/cge.13617
PDF(Sci-hub)