Phenotype-genotype correlations - Can we expect to find them?

Audiological Medicine

Volumn 2, Issue 4, 2004, Pages 255-258

  Mazzoli, Manuela ^a   Parving, Agnete ^b  

^a UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26;

AUDIOLOGY; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; GENE MUTATION; GENETIC ANALYSIS; GENETIC CORRELATION; GENETIC HETEROGENEITY; GENOTYPE; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; NEUROPATHY; NOTE; PHENOTYPE; PRIORITY JOURNAL;

EID: 11144233336     PISSN: 1651386X     EISSN: None     Source Type: Journal    
DOI: 10.1080/16513860410005352     Document Type: Note

References (13)

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3. Cremers CWRJ, Smith RJH. (2002). Genetic Hearing impairment - its clinical presentations., pp. 1-248.
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10. Bespalova IN, Van-Camp G, Bom STH, Brown DJ, Cryns K, et al. (2001) Mutations in the wolframin gene (WFS1) are a common cause of low-frequency sensorineural hearing loss. Hum Mol Genet 10: 2501-8.
11. Cryns K, Pfister M, Pennings RJE, Bom STH, Flothmann K, et al. (2002) Mutations in WGS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum Genet 110: 389-94.
12. Young T-L, Ives E, Lynch E, et al. (2001) Non-syndromic progressive hearing loss DFA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum Mol Genet 10: 2509-14.
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