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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Hoofdauteurs: Naz, S, Griffith, A, Riazuddin, S, Hampton, L, Battey, J, Khan, S, Wilcox, E, Friedman, T
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMJ Group 2004
Onderwerpen:
Short Report
Online toegang: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
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items