From gene to disease: Deafness and connexin 26;Van gen naar ziekte; slechthorendheid en connexine 26

Nederlands Tijdschrift voor Geneeskunde

Volumn 146, Issue 6, 2002, Pages 259-261

  Hoefsloot, L H ^a   Kemperman, M ^a   Cremers, C W R J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; POTASSIUM ION;

ARTICLE; AUDITORY STIMULATION; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CONGENITAL DEAFNESS; ENDOLYMPH; FAMILY STUDY; GENE MUTATION; GENETIC VARIABILITY; HUMAN; PATHOGENESIS; POTASSIUM TRANSPORT; PROTEIN FUNCTION;

CONNEXINS; DEAFNESS; GENES, RECESSIVE; GENOTYPE; HEARING; HUMANS; MUTATION; PHENOTYPE;

EID: 0037045509     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
2. Connexin 26: Required for normal auditory function
3. Molecular basis of deafness due to mutations in the connexin 26 gene (GJB2)
4. Gap junction systems in the mammalian cochlea
5. High carrier frequency of the 35delG deafness mutation in European populations