A novel dominant missense mutation - D179N - In the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss

Clinical Genetics

Volumn 63, Issue 6, 2003, Pages 516-521

  Primignani, P ^a   Castorina, P ^b   Sironi, F ^a   Curcio, C ^a   Ambrosetti, U ^c   Coviello, Domenico A ^a  

^a Laboratorio di Informatica Medica   (Italy)

^b PARKINSON INSTITUTE   (Italy)

^c FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Connexin 26; D179N; Deafness; Dominant inheritance; GJB2 mutation

Indexed keywords

ADENINE; ASPARAGINE; ASPARTIC ACID; CONNEXIN 26; GUANINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUDIOMETRY; CASE REPORT; CONGENITAL DEAFNESS; CONTROLLED STUDY; EXON; FAMILY; FEMALE; GENE DELETION; GENE SEQUENCE; GENETIC CODE; HETEROZYGOSITY; HUMAN; ITALY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SCHOOL CHILD; SEQUENCE ANALYSIS; TYMPANOMETRY;

AMINO ACID SUBSTITUTION; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; HEARING LOSS; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE;

EID: 0042632661     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00079.x     Document Type: Article

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