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A mutation in PDS causes non-syndromic recessive deafness.

作者信息

Li X C, Everett L A, Lalwani A K, Desmukh D, Friedman T B, Green E D, Wilcox E R

出版信息

Nat Genet. 1998 Mar;18(3):215-7. doi: 10.1038/ng0398-215.

DOI:10.1038/ng0398-215
PMID:9500541
Abstract
摘要

相似文献

1
A mutation in PDS causes non-syndromic recessive deafness.PDS基因的突变会导致非综合征性隐性耳聋。
Nat Genet. 1998 Mar;18(3):215-7. doi: 10.1038/ng0398-215.
2
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.彭德莱德综合征(甲状腺肿和感音神经性听力损失)定位于7号染色体上包含非综合征性耳聋基因DFNB4的区域。
Nat Genet. 1996 Apr;12(4):421-3. doi: 10.1038/ng0496-421.
3
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.彭德莱德综合征:两个携带相同PDS错义突变的家族中的表型变异性。
Am J Med Genet. 2000 Jan 3;90(1):38-44.
4
Deafness genes.耳聋基因
J Med Dent Sci. 2000 Mar;47(1):1-11.
5
Syndromic and non-syndromic deafness, molecular aspects of Pendred syndrome and its reported mutations.综合征性和非综合征性耳聋、彭德莱德综合征的分子特征及其报道的突变。
J Ayub Med Coll Abbottabad. 2003 Jul-Sep;15(3):59-64.
6
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.在地中海地区听力障碍家庭中鉴定PDS/SLC26A4的五个新突变。
Hum Mutat. 2001 Dec;18(6):548. doi: 10.1002/humu.1238.
7
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.突尼斯两个近亲家庭中与非综合征性常染色体隐性耳聋相关的TMPRSS3新错义突变
Hum Mutat. 2001 Aug;18(2):101-8. doi: 10.1002/humu.1159.
8
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.DFNB31是一种隐性遗传性感音神经性听力损失,定位于9号染色体q32 - 34区域。
Eur J Hum Genet. 2002 Mar;10(3):210-2. doi: 10.1038/sj.ejhg.5200780.
9
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).
Nat Genet. 1997 Dec;17(4):411-22. doi: 10.1038/ng1297-411.
10
[Identification of two heterozygous mutations in the SLC26A4/PDS gene in a family with Pendred-syndrome].[一个患有 Pendred 综合征的家族中 SLC26A4/PDS 基因两个杂合突变的鉴定]
Laryngorhinootologie. 2004 Dec;83(12):831-5. doi: 10.1055/s-2004-826001.

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Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China.在中国西南云南省的非综合征型听力损失患者中,SLC26A4 c.919-2A > G 变异的低频率。
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