期刊
HUMAN GENETICS
卷 109, 期 5, 页码 535-541出版社
SPRINGER
DOI: 10.1007/s004390100604
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资金
- NCI NIH HHS [P01CA75719] Funding Source: Medline
- NCRR NIH HHS [M01RR00188] Funding Source: Medline
- NICHD NIH HHS [K08HD01149, HD94021] Funding Source: Medline
- NIDCD NIH HHS [1 Z01 DC00039-04, 1 Z01 DC00035-04] Funding Source: Medline
Mutations in myosin XVA are responsible for the shaker 2 (sh2) phenotype in mice and nonsyndromic autosomal recessive profound hearing loss DFNB3 on chromosome 17p 11.2. We have ascertained seven families with profound congenital hearing loss from Pakistan and India with evidence of linkage to DFNB3 at 17p11.2. We report three novel homozygous mutations in MYO15A segregating in three of these families. In addition, one hemizygous missense mutation of MYO15A was found in one of eight Smith-Magenis syndrome (del(17)p11.2) patients from North America who had moderately severe sensorineural hearing loss.
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