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Volumn 5, Issue , 2005, Pages

C.35delG/GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CROATIA; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENE SEQUENCE; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; INFANT; MALE; POLYMERASE CHAIN REACTION;

EID: 30044437348     PISSN: 14726815     EISSN: 14726815     Source Type: Journal    
DOI: 10.1186/1472-6815-5-11     Document Type: Article
Times cited : (12)

References (23)
  • 5
    • 0036654536 scopus 로고    scopus 로고
    • GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review
    • Kenneson A, Van Naarden Braun K, Boyle C: GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 2002, 4:258-274.
    • (2002) Genet Med , vol.4 , pp. 258-274
    • Kenneson, A.1    Van Naarden Braun, K.2    Boyle, C.3
  • 15
    • 13444274773 scopus 로고    scopus 로고
    • Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is possible, but very rare, cause of congenital deafness in the Czech population
    • Seeman P, Bendova O, Raskova D, Malikova M, Groh D, Kabelka Z: Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is possible, but very rare, cause of congenital deafness in the Czech population. Ann Hum Genet 2005, 69(1):9-14.
    • (2005) Ann Hum Genet , vol.69 , Issue.1 , pp. 9-14
    • Seeman, P.1    Bendova, O.2    Raskova, D.3    Malikova, M.4    Groh, D.5    Kabelka, Z.6
  • 23
    • 0033577528 scopus 로고    scopus 로고
    • Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: Implications for genetic counselling
    • Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabedian EN, Petit C: Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 1999, 353:1298-1303.
    • (1999) Lancet , vol.353 , pp. 1298-1303
    • Denoyelle, F.1    Marlin, S.2    Weil, D.3    Moatti, L.4    Chauvin, P.5    Garabedian, E.N.6    Petit, C.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.