A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss

Gene

Volumn 534, Issue 2, 2014, Pages 236-239

  Faletra, Flavio ^a   Girotto, Giorgia ^b   D'Adamo, Adamo Pio ^b   Vozzi, Diego ^a   Morgan, Anna ^b   Gasparini, Paolo ^a,b  

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^b UNIVERSITY OF TRIESTE   (Italy)

Author keywords

ADNSHL; DFNA41; Mutation; P.Gly353Arg; P2RX2

Indexed keywords

ARGININE; GLYCINE; PURINERGIC P2X2 RECEPTOR;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHANNEL GATING; CLINICAL ARTICLE; CONTROLLED STUDY; GENETIC LINKAGE; HEARING IMPAIRMENT; HUMAN; ITALY; LINKAGE ANALYSIS; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN STRUCTURE;

ADNSHL; AUTOSOMAL DOMINANT NON-SYNDROMIC HEARING LOSS; DFNA41; HEARING LOSS; HEREDITARY HEARING LOSS; HHL; HL; MUTATION; NON-SYNDROMIC HEARING LOSS; NSHL; P.GLY353ARG; P2RX2;

AMINO ACID SEQUENCE; DEAFNESS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; ITALY; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; RECEPTORS, PURINERGIC P2X2;

EID: 84890428608     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.10.052     Document Type: Article

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