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Volumn 131, Issue 12, 2005, Pages 1057-1063

Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN POU3F4; UNCLASSIFIED DRUG;

EID: 29144469466     PISSN: 08864470     EISSN: 08864470     Source Type: Journal    
DOI: 10.1001/archotol.131.12.1057     Document Type: Article
Times cited : (52)

References (14)
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    • De Kok YJM, Merkx GFM, van der Maarel SM, et al. 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. Hum Mol Genet. 1995;4:2145-2150.
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  • 3
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  • 5
    • 0029162426 scopus 로고
    • Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3
    • Bitner-Glindzicz M, Turnpenny P, Hoglund P, et al. Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. Hum Mol Genet. 1995;4:1467-1469.
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  • 7
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    • Friedman RA, Bykhovskaya Y, Tu G, et al. Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher. Ann Otol Rhinol Laryngol. 1997;106:320-325.
    • (1997) Ann Otol Rhinol Laryngol , vol.106 , pp. 320-325
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  • 8
    • 0030768852 scopus 로고    scopus 로고
    • The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for a POU3F4 missense mutation
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.