A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
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DOI：
10.1136/jmg.2004.028324
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发表时间：
2005-07-01
影响因子：
4
通讯作者：
del Castillo, I
中科院分区：
文献类型：
--
作者：
del Castillo, FJ;Rodríguez-Ballesteros, M;del Castillo, I
方法对西班牙、意大利、法国、比利时、英国、以色列、巴勒斯坦权力机构、美国、巴西和澳大利亚的ARNSHI先证者及其亲属进行研究。在获得书面知情同意后，采集血样并按标准程序提取DNA。
METHODS This study was done on probands with ARNSHI and their relatives from Spain, Italy, France, Belgium, the United Kingdom, Israel, the Palestinian Authority, the USA, Brazil, and Australia. After getting written informed consent, blood samples were obtained and DNA was extracted by standard procedures.