Yalin Ma
Shandong University
3 Papers
13 Citations
Yalin Ma is an academic researcher from Shandong University. The author has contributed to research in topics: Compound heterozygosity & Sanger sequencing. The author has an hindex of 3, co-authored 3 publications.
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Papers
Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family
TL;DR: The novel compound heterozygous mutations in MYO7A gene identified in this study were responsible for the autosomal recessive sensorineural hearing loss of this Chinese family.
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A novel mutation in PAX3 associated with Waardenburg syndrome type I in a Chinese family.
Yun Xiao,Jianfen Luo,Fengguo Zhang,Jianfeng Li,Yuechen Han,Daogong Zhang,Mingming Wang,Yalin Ma,Lei Xu,Xiaohui Bai,Haibo Wang +10 more
TL;DR: The phylogenetic analysis and three-dimensional (3D) modeling of Pax3 protein further confirmed that the novel compound heterozygous mutation was pathogenic.
6
GJB2, SLC26A4, and mitochondrial DNA12S rRNA hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China
TL;DR: In this cohort of 156 non-syndromic hearing-impaired subjects of Tengzhou area, the most common deafness-associated genes GJB2, SLC26A4 and mtDNA 12S rRNA were investigated by SNPscan efficiently and confirmed 23 deafhood-causing mutations and 27 different allelic combinations.