Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations
A Sırmacı, D Duman, H Öztürkmen-Akay… - International journal of …, 2009 - Elsevier
Genome wide homozygosity mapping using Affymetrix 10K arrays revealed the DFNB7/11
locus including the TMC1 gene in 5 of 35 Turkish families with autosomal recessive
nonsyndromic severe to profound congenital or prelingual-onset sensorineural hearing loss
(SNHL). Additional 51 families were later screened for co-segregation of the locus with the
phenotype using microsatellite markers. GJB2 and mtDNA A1555G mutations were negative
in probands from each family. Mutation analysis was performed in families showing co …
locus including the TMC1 gene in 5 of 35 Turkish families with autosomal recessive
nonsyndromic severe to profound congenital or prelingual-onset sensorineural hearing loss
(SNHL). Additional 51 families were later screened for co-segregation of the locus with the
phenotype using microsatellite markers. GJB2 and mtDNA A1555G mutations were negative
in probands from each family. Mutation analysis was performed in families showing co …
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