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Volumn 99, Issue 5, 1997, Pages 674-676

Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CODON; DELETION MUTANT; EXON; GENE DUPLICATION; GENE MUTATION; GENETIC SCREENING; HUMAN; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEUROFIBROMATOSIS; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL;

EID: 0030937722     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050427     Document Type: Article
Times cited : (23)

References (14)
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    • The Human Gene Mutation Database
    • Cooper DN, Krawczak M (1996) The Human Gene Mutation Database. Hum Genet. 98:629 (Internet address http://www. cf.ac.uk/uwcm/mg/hgmd0.html)
    • (1996) Hum Genet. , vol.98 , pp. 629
    • Cooper, D.N.1    Krawczak, M.2
  • 3
    • 0000498063 scopus 로고
    • Von Recklinghausen neurofibromatosis
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGrawHill, New York
    • Gutmann DH, Collins FS (1995) Von Recklinghausen neurofibromatosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease. McGrawHill, New York, pp 677-696
    • (1995) The Metabolic and Molecular Basis of Inherited Disease , pp. 677-696
    • Gutmann, D.H.1    Collins, F.S.2
  • 5
    • 84920293034 scopus 로고    scopus 로고
    • Korf BR (1996) NNFF international NF1 genetic analysis consortium (8/96)
    • Korf BR (1996) NNFF international NF1 genetic analysis consortium (8/96)
  • 6
    • 0029029525 scopus 로고
    • The mutational demography of protein C deficiency
    • Krawczak M, Reitsma PH, Cooper DN (1995) The mutational demography of protein C deficiency. Hum Genet 96:142-146
    • (1995) Hum Genet , vol.96 , pp. 142-146
    • Krawczak, M.1    Reitsma, P.H.2    Cooper, D.N.3
  • 7
    • 0029737765 scopus 로고    scopus 로고
    • Molecular reconstruction and homology modelling of the catalytic domain of the common ancestor of the haemostatic vitamin-K-dependent serine proteinases
    • Krawczak M, Wacey AI, Cooper DN (1996) Molecular reconstruction and homology modelling of the catalytic domain of the common ancestor of the haemostatic vitamin-K-dependent serine proteinases. Hum Genet 98:351-370
    • (1996) Hum Genet , vol.98 , pp. 351-370
    • Krawczak, M.1    Wacey, A.I.2    Cooper, D.N.3
  • 10
    • 0030024492 scopus 로고    scopus 로고
    • Molecular genetics of neurofibromatosis type 1 (NF1)
    • Shen MH, Harper PS, Upadhyaya M (1996) Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet 33:2-17
    • (1996) J Med Genet , vol.33 , pp. 2-17
    • Shen, M.H.1    Harper, P.S.2    Upadhyaya, M.3
  • 13
    • 1842360697 scopus 로고    scopus 로고
    • On the perturbational effects of amino acid substitutions in the DNA binding domain of p53
    • submitted
    • Wacey AI, Cooper DN, Pavletich NP, Hovig E, Krawczak M (1996) On the perturbational effects of amino acid substitutions in the DNA binding domain of p53. Cancer Res (submitted)
    • (1996) Cancer Res
    • Wacey, A.I.1    Cooper, D.N.2    Pavletich, N.P.3    Hovig, E.4    Krawczak, M.5
  • 14
    • 0025244911 scopus 로고
    • The catalytic domain of the neurofibromatosis type1 gene product stimulates ras GTPase and complements IRA1 mutants of S. cerevisae
    • Xu G, Lin B, Tanaka K, Dunn D, Wood D, Gesteland R, White R, Weiss R, Tamanoi F (1990) The catalytic domain of the neurofibromatosis type1 gene product stimulates ras GTPase and complements IRA1 mutants of S. cerevisae. Cell 63:835-841
    • (1990) Cell , vol.63 , pp. 835-841
    • Xu, G.1    Lin, B.2    Tanaka, K.3    Dunn, D.4    Wood, D.5    Gesteland, R.6    White, R.7    Weiss, R.8    Tamanoi, F.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.