Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction

We mapped a human deafness locus DFNB36 to chromosome 1p36.3 in two consanguineous families segregating recessively inherited deafness and vestibular areflexia. This phenotype co-segregates with either of two frameshift mutations, 1988delAGAG and 2469delGTCA, in ESPN, which encodes a calcium-insensi...

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Hlavní autoři: Naz, S, Griffith, A, Riazuddin, S, Hampton, L, Battey, J, Khan, S, Wilcox, E, Friedman, T
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2004
Témata:
Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735855/
https://ncbi.nlm.nih.gov/pubmed/15286153
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.018523
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