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Deleterious mutation in GPSM2 identified as cause for nonsyndromic deafness
Author(s) -
Schulze JM
Publication year - 2011
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2010.01556_1.x
Subject(s) - exome sequencing , genetics , disease gene identification , mutation , hearing loss , biology , exome , medical genetics , medicine , audiology , gene
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82 Walsh et al. (2010) The American Journal of Human Genetics 87: 90–94