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受深圳台风 “桦加沙” 影响及全市 “五停” 要求，9 月 23 日至 24 日，微基因暂停样本收样、订单发货与实验生产。
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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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GJB2
位点：I4000434
位点：I4000435
位点：RS80338939
位点：RS80338942
David TJ, et al. Trisomy 21 and trisomy 18 in half-siblings. 2015
Carrasquillo MM, et al. Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. 1997
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
D'Andrea P, et al. Hearing loss: frequency and functional studies of the most common connexin26 alleles. 2002
Alvarez A, et al. High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss. 2005
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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