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Volumn 44, Issue 4, 1999, Pages 235-239

Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome

Author keywords

Alagille syndrome; JAG1

Indexed keywords

ALAGILLE SYNDROME; ARTICLE; CLINICAL ARTICLE; CONGENITAL MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; HUMAN TISSUE; NONSENSE MUTATION; PHENOTYPE; PROTEIN DOMAIN; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0033009915     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050150     Document Type: Article
Times cited : (16)

References (14)
  • 1
    • 0016439420 scopus 로고
    • Hepatic ductular hypoplasia associated with characteristic faces, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur
    • Alagille D, Odievre M, Gautier M, Dommergues JP (1975) Hepatic ductular hypoplasia associated with characteristic faces, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur. J Pediatr 86:63-71
    • (1975) J Pediatr , vol.86 , pp. 63-71
    • Alagille, D.1    Odievre, M.2    Gautier, M.3    Dommergues, J.P.4
  • 3
    • 0028059646 scopus 로고
    • Mapping of microsatellite markers in the Alagille region and screening of microdeletions by genotyping 23 patients
    • Deleuze JF, Hazan J, Dhorne S, Weissenbach J, Hadchouel M (1994) Mapping of microsatellite markers in the Alagille region and screening of microdeletions by genotyping 23 patients. Eur J Hum Genet 2:185-190
    • (1994) Eur J Hum Genet , vol.2 , pp. 185-190
    • Deleuze, J.F.1    Hazan, J.2    Dhorne, S.3    Weissenbach, J.4    Hadchouel, M.5
  • 8
    • 0026794668 scopus 로고
    • The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
    • Krawczack M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54
    • (1992) Hum Genet , vol.90 , pp. 41-54
    • Krawczack, M.1    Reiss, J.2    Cooper, D.N.3
  • 12
    • 0028787575 scopus 로고
    • Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12
    • Rand EB, Spinner NB, Piccoli DA, Whitington PF, Taub R (1995) Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12. Am J Hum Genet 57:1068-1073
    • (1995) Am J Hum Genet , vol.57 , pp. 1068-1073
    • Rand, E.B.1    Spinner, N.B.2    Piccoli, D.A.3    Whitington, P.F.4    Taub, R.5
  • 13
    • 0028128735 scopus 로고
    • Cytogenetically balanced 1 (2;20) in a two-generation family with Alagille syndrome: Cytogenetic and molecular studies
    • Spinner NB, Rand EB, Fortina P, Genin A, Taub R, Semeraro A, Piccoli DA (1994) Cytogenetically balanced 1 (2;20) in a two-generation family with Alagille syndrome: cytogenetic and molecular studies. Am J Hum Genet 55:238-243
    • (1994) Am J Hum Genet , vol.55 , pp. 238-243
    • Spinner, N.B.1    Rand, E.B.2    Fortina, P.3    Genin, A.4    Taub, R.5    Semeraro, A.6    Piccoli, D.A.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.