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Updated: Jul 16, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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在印度患者中鉴定了一种与SGCB c.544 T > G突变分离的共享的,常见的哈普洛型,这些患者患有肉糖病症

Shamita Sanga1, Sudipta Chakraborty1,2, Mainak Bardhan3

  • 1National Institute of Biomedical Genomics, P.O: N.S.S, Kalyani, West Bengal, 741251, India.

Scientific reports
|September 12, 2023
PubMed
概括

在南印度家庭中发现了一种常见的遗传突变,导致一种肌肉发育不良的形式sarcoglycanopathy. 这一发现表明了创始人效应,并强调南印度是选这种特定遗传疾病的关键地区.

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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