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Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.

作者信息

Bitner-Glindzicz M, Turnpenny P, Höglund P, Kääriäinen H, Sankila E M, van der Maarel S M, de Kok Y J, Ropers H H, Cremers F P, Pembrey M

机构信息

Department of Clinical Genetics, Institute of Child Health, London, UK.

出版信息

Hum Mol Genet. 1995 Aug;4(8):1467-9. doi: 10.1093/hmg/4.8.1467.

DOI:10.1093/hmg/4.8.1467
PMID:7581392
Abstract
摘要

相似文献

1
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.脑4（POU3F4）中的进一步突变明确了X连锁耳聋DFN3的表型。
Hum Mol Genet. 1995 Aug;4(8):1467-9. doi: 10.1093/hmg/4.8.1467.
2
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.X连锁混合性耳聋与POU结构域基因POU3F4突变之间的关联。
Science. 1995 Feb 3;267(5198):685-8. doi: 10.1126/science.7839145.
3
A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3).一个患有X连锁混合性耳聋（DFN3）的日本家庭中POU3F4基因的新突变。
Laryngoscope. 1998 Oct;108(10):1544-7. doi: 10.1097/00005537-199810000-00022.
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Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.新型 POU3F4 突变的临床和分子特征表明，DFN3 是由于 POU3F4 蛋白的功能缺失所致。
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5
The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation.两例散发性X连锁3型耳聋（DFN3）的分子基础：POU3F4错义突变的体细胞镶嵌现象鉴定
Hum Mutat. 1997;10(3):207-11. doi: 10.1002/(SICI)1098-1004(1997)10:3<207::AID-HUMU5>3.0.CO;2-F.
6
Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA.使用 MLPA 对 POU3F4 基因座缺失的 DFN3 患者进行临床评估及携带者女性的检测。
Clin Genet. 2010 Dec;78(6):524-32. doi: 10.1111/j.1399-0004.2010.01426.x.
7
Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher.对具有临床和影像学证据的X连锁混合性耳聋伴外淋巴瘘患者的POU3F4基因进行分子分析。
Ann Otol Rhinol Laryngol. 1997 Apr;106(4):320-5. doi: 10.1177/000348949710600411.
8
A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene.与家族性X连锁耳聋（DFN3）相关的重复/臂内倒位提示在POU3F4基因上游超过400 kb处存在一个调控元件。
Hum Mol Genet. 1995 Nov;4(11):2145-50. doi: 10.1093/hmg/4.11.2145.
9
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness.两个家族中与X连锁非综合征性耳聋相关的POU3F4基因缺失及新的错义突变
Arch Otolaryngol Head Neck Surg. 2005 Dec;131(12):1057-63. doi: 10.1001/archotol.131.12.1057.
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