The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness

International Journal of Pediatric Otorhinolaryngology

Volumn 76, Issue 7, 2012, Pages 969-971

  Petersen, Michael B ^a   Grigoriadou, Maria ^a   Koutroumpe, Maria ^b   Kokotas, Haris ^a  

^a AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^b P AND A KYRIAKOU CHILDREN S HOSPITAL   (Greece)

Author keywords

Deafness; GJB2; Mutation; Novel; Prelingual; Sensorineural

Indexed keywords

CONNEXIN 26; GENOMIC DNA;

ALLELE; ARTICLE; CASE REPORT; DISEASE CLASSIFICATION; GENE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GJB2 GENE; HEARING LOSS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PERCEPTION DEAFNESS; PRELIGUAL DEAFNESS; PRIORITY JOURNAL; PURE TONE AUDIOMETRY;

CONNEXINS; DEAFNESS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GREECE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; MALE; MUTATION;

EID: 84861927324     PISSN: 01655876     EISSN: 18728464     Source Type: Journal    
DOI: 10.1016/j.ijporl.2012.03.007     Document Type: Article

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