Occurrence of Del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele

Acta Oto-Laryngologica, Supplement

Volumn 124, Issue 552, 2004, Pages 29-34

  Gualandi, F ^a   Ravani, A ^a   Berto, A ^a   Burdo, S ^b   Trevisi, P ^a   Ferlini, A ^a   Martini, A ^a   Calzolari, E ^a  

^a UNIVERSITY OF FERRARA   (Italy)

^b OSPEDALE DI CIRCOLO   (Italy)

Author keywords

Connexin 26; Connexin 30; Genetic deafness; Mutation analysis; Phenotypic expression

Indexed keywords

ALLELE; CONFERENCE PAPER; CONNEXIN 26 GENE; CONNEXIN 30 GENE; CONTROLLED STUDY; DISEASE SEVERITY; ETHNIC GROUP; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; HEARING LOSS; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; NONSYNDROMIC HEARING LOSS; PATIENT; PRIORITY JOURNAL; SCREENING; ARTICLE; GENETIC SCREENING; GENETICS; HETEROZYGOSITY LOSS; ITALY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE;

CONNEXIN 26; GAP JUNCTION PROTEIN;

CONNEXINS; DNA MUTATIONAL ANALYSIS; GENETIC SCREENING; HEARING LOSS; HETEROZYGOTE; HUMANS; ITALY; LOSS OF HETEROZYGOSITY; MUTATION, MISSENSE; PHENOTYPE;

EID: 16544381682     PISSN: 03655237     EISSN: None     Source Type: Journal    
DOI: 10.1080/03655230410017166     Document Type: Conference Paper

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