遗传学
基因
生物
听力损失
连接蛋白
突变
缝隙连接
听力学
医学
细胞内
标识
DOI:10.1136/jmg.36.6.503b
摘要
1. Xia J-H,
2. Liu C-Y,
3. Tang B-S,
4. et al.
(1998) Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet 20.4:370–373.
Over 40 loci for deafness have been genetically mapped but only in very recent years have causative genes been identified. Two of these are connexins and this promted Xia et al to search for new human connexin genes and look for mutations in families with deafness. From a database, two overlapping ESTs were identified with …
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