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遗传性耳聋
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遗传性耳聋的检测
angelazrt
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Wesee
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2016-07-15 19:33
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相关基因
GJB2
位点：I4000434
位点：I4000435
位点：RS80338939
位点：RS80338942
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Abe S, et al. Prevalent connexin 26 gene (GJB2) mutations in Japanese. 2000
Anichkina A, et al. On the origin and frequency of the 35delG allele in GJB2-linked deafness in Europe. 2001
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Morell RJ, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. 1998
Sobe T, et al. High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim. 1999
Sobe T, et al. The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. 2000
Dong J, et al. Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews. 2001
Lerer I, et al. A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews. 2001
Morell RJ, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. 1998
Griffith AJ, et al. Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT. 2000
Hreshchyshyn MM, et al. Hydroxyurea or placebo combined with radiation to treat stages IIIB and IV cervical cancer confined to the pelvis. 1979
Sobe T, et al. High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim. 1999
Sobe T, et al. The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. 2000
Dong J, et al. Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews. 2001
Lerer I, et al. A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews. 2001
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