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Volumn 141, Issue 4, 2006, Pages

Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CATARACT; CHROMOSOME 12Q; CHROMOSOME 13; EXON; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENOMICS; HUMAN; MAJOR INTRINSIC PROTEIN GENE; MALE; MOLECULAR CLONING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 33645309645     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2005.11.008     Document Type: Article
Times cited : (61)

References (6)
  • 1
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    • 0033856255 scopus 로고    scopus 로고
    • A new locus for autosomal dominant cataract on chromosome 12q13
    • J.B. Bateman, M. Johannes, P. Flodman A new locus for autosomal dominant cataract on chromosome 12q13 Invest Ophthalmol Vis Sci 41 2000 2665 2670
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 2665-2670
    • Bateman, J.B.1    Johannes, M.2    Flodman, P.3
  • 3
    • 0026325136 scopus 로고
    • Genomic cloning, complete nucleotide sequence, and structure of the human gene encoding the major intrinsic protein (MIP) of the lens
    • M.M. Pisano, A.B. Chepelinsky Genomic cloning, complete nucleotide sequence, and structure of the human gene encoding the major intrinsic protein (MIP) of the lens Genomics 11 1991 981 990
    • (1991) Genomics , vol.11 , pp. 981-990
    • Pisano, M.M.1    Chepelinsky, A.B.2
  • 4
    • 0029621837 scopus 로고
    • Isolation and characterization of the 5′-flanking sequence of the human ocular lens MIP gene
    • X.Y. Wang, C. Ohtaka-Maruyama, M.M. Pisano, C.J. Jaworski, A.B. Chepelinsky Isolation and characterization of the 5′-flanking sequence of the human ocular lens MIP gene Gene 167 1995 321 325
    • (1995) Gene , vol.167 , pp. 321-325
    • Wang, X.Y.1    Ohtaka-Maruyama, C.2    Pisano, M.M.3    Jaworski, C.J.4    Chepelinsky, A.B.5
  • 5
    • 0034118380 scopus 로고    scopus 로고
    • Missense mutations in MIP underlie autosomal dominant "polymorphic" and lamellar cataracts linked to 12q
    • V. Berry, P. Francis, S. Kaushal, A. Moore, S. Bhattacharya Missense mutations in MIP underlie autosomal dominant "polymorphic" and lamellar cataracts linked to 12q Nat Genet 25 2000 15 17
    • (2000) Nat Genet , vol.25 , pp. 15-17
    • Berry, V.1    Francis, P.2    Kaushal, S.3    Moore, A.4    Bhattacharya, S.5
  • 6
    • 0033675222 scopus 로고    scopus 로고
    • Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0)
    • P. Francis, V. Berry, S. Bhattacharya, A. Moore Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0) Br J Ophthalmol 84 2000 1376 1379
    • (2000) Br J Ophthalmol , vol.84 , pp. 1376-1379
    • Francis, P.1    Berry, V.2    Bhattacharya, S.3    Moore, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.