A new era in the genetics of deafness.
A new era in the genetics of deafness.
复制标题
耳聋遗传学的新时代。
DOI：
10.1056/nejm199811193392110
复制
发表时间：
1998
期刊：
影响因子：
--
通讯作者：
K. Steel
中科院分区：
文献类型：
--
作者：
K. Steel
耳聋的遗传基础研究已经取得了巨大进展。十种不同的基因自1997年5月以来，人们一直认为，每1000名出生时患有严重听力障碍的儿童中，约有一半是由单基因缺陷引起的，但许多新发现的导致耳聋的基因涉及成年后开始的听力逐渐丧失，这表明单个基因也可能在整个人群的听力损失中起重要作用。16%的成年人有临床相关的......
There has been tremendous progress in research on the genetic basis of deafness. Ten different genes for nonsyndromic (uncomplicated) deafness have been identified since May 1997.1 It has always been assumed that single-gene defects were responsible for the condition in approximately half of the 1 in 1000 children who are born with a serious hearing impairment, but many of the newly identified genes causing deafness involve progressive loss of hearing that begins in adulthood, suggesting that single genes may also play an important part in hearing loss in the population as a whole. Sixteen percent of adults have clinically relevant . . .
影响因子：
9.8
作者：
Kelley, PM;Harris, DJ;Kimberling, WJ
通讯作者：
Kimberling, WJ