Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

Human Genetics

Volumn 106, Issue 1, 2000, Pages 40-44

  Rabionet, Raquel ^a   Zelante, Leopoldo ^a   López Bigas, Núria ^a   D'Agruma, Leonardo ^b   Melchionda, Salvatore ^b   Restagno, Gabriella ^c   Arbonés, Maria Lourdes ^a   Gasparini, Paolo ^b   Estivill, Xavier ^a,d  

^a Institut de Recerca Oncologica   (Spain)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c MOLINETTE HOSPITAL   (Italy)

^d Hospital Duran i Reynals   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26;

ALLELE; ARTICLE; CAUCASIAN; CONTROLLED STUDY; DELETION MUTANT; FRAMESHIFT MUTATION; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; ITALY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR GENETICS; NONSENSE MUTATION; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SPAIN;

ALLELES; CHILD; CONNEXINS; FRAMESHIFT MUTATION; GENE DELETION; GENES, RECESSIVE; HEARING LOSS, SENSORINEURAL; HUMANS; MUTATION; MUTATION, MISSENSE;

EID: 0034098926     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051007     Document Type: Article

References (20)

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