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Volumn 84, Issue 12, 2000, Pages 1376-1379

Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CHROMOSOME MAP; CONGENITAL CATARACT; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC LINKAGE; HUMAN; INHERITANCE; KERATOPATHY; MALE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0033675222     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.84.12.1376     Document Type: Article
Times cited : (59)

References (36)
  • 8
    • 0032780886 scopus 로고    scopus 로고
    • Connexin 50 mutation in a family with congenital 'zonular nuclear' pulverulent cataract (CZNP) of Pakistani origin
    • (1999) Hum Genet , vol.105 , pp. 168-170
    • Berry, V.1    Mackay, D.2    Khaliq, S.3
  • 10
    • 0034118380 scopus 로고    scopus 로고
    • Missense mutations in the human MIP gene, encoding the major intrinsic protein of the lens, underlie autosomal dominant 'polymorphic' and lamellar cataracts on 12q
    • (2000) Nat Genet , vol.25 , pp. 15-17
    • Berry, V.1    Francis, P.2    Kaushal, S.3
  • 11
    • 0030031158 scopus 로고    scopus 로고
    • Mutations in the founder of the MIP gene family underlie cataract development in the mouse
    • (1996) Nat Genet , vol.12 , pp. 212-215
    • Shiels, A.1    Bassnett, S.2
  • 31
    • 0024762927 scopus 로고
    • X-linked cataract and X-linked microphthalmos: How many deletion families?
    • (1989) Am J Med Genet , vol.34 , pp. 451-453
    • Warburg, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.