Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment

American Journal of Human Genetics

Volumn 91, Issue 5, 2012, Pages 883-889

  Schraders, Margit ^a,b,c   Ruiz Palmero, Laura ^d,e   Kalay, Ersan ^f   Oostrik, Jaap ^a,b,c   Del Castillo, Francisco J ^d,e   Sezgin, Orhan ^f   Beynon, Andy J ^a,c   Strom, Tim M ^g   Pennings, Ronald J E ^a,c   Seco, Celia Zazo ^a,b,c   Oonk, Anne M M ^a,c   Kunst, Henricus P M ^a,c   Domínguez Ruiz, María ^d,e   García Arumi, Ana M ^h   Del Campo, Miguel ^h   Villamar, Manuela ^d,e   Hoefsloot, Lies H ^a   Moreno, Felipe ^d,e   Admiraal, Ronald J C ^a,c   Del Castillo, Ignacio ^d,e   Kremer, Hannie ^a,b,c   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY   (Netherlands)

^d HOSPITAL RAMÓN Y CAJAL   (Spain)

^e CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^f KARADENIZ TECHNICAL UNIVERSITY   (Turkey)

^g INSTITUTE OF EPIDEMIOLOGY   (Germany)

^h HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; CONNEXIN 30; GLYCOPROTEIN; OTOGELIN; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR;

ARTICLE; AUDIOGRAPHY; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING IMPAIRMENT; CHROMOSOME 11; EXON; GENE DELETION; GENE LOCUS; GENE MAPPING; GENETIC CODE; GENETIC VARIABILITY; HAPLOTYPE; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; INTRON; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SHORT TANDEM REPEAT;

GENES, RECESSIVE; HEARING LOSS, SENSORINEURAL; HOMOZYGOTE; HUMANS; MEMBRANE GLYCOPROTEINS; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SIBLINGS;

MURINAE;

EID: 84868364276     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.09.012     Document Type: Article

References (36)

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