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Mutation Analysis of SLC26A4 for Pendred Syndrome and Nonsyndromic Hearing Loss by High-Resolution Melting

Pendred syndrome and DFNB4 (autosomal recessive nonsyndromic congenital deafness, locus 4) are associated with autosomal recessive congenital sensorineural hearing loss and mutations in the SLC26A4 gene. Extensive allelic heterogeneity, however, necessitates analysis of all exons and splice sites to...

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Hlavní autoři: Chen, Neng, Tranebjærg, Lisbeth, Rendtorff, Nanna Dahl, Schrijver, Iris
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Investigative Pathology 2011
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3123795/
https://ncbi.nlm.nih.gov/pubmed/21704276
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2011.03.003
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