메뉴 건너뛰기




Volumn 98, Issue 1, 1996, Pages 7-11

Identification and characterization of NF1-related loci on human chromosomes 22, 14 and 2

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; NEUROFIBROMIN;

EID: 0029952565     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050151     Document Type: Article
Times cited : (26)

References (26)
  • 3
    • 0008602492 scopus 로고
    • NF1-related loci on chromosomes 2, 12, 14, 15, 20, 21, and 22: A potentional role of gene conversion in the high spontaneous mutation rate of NF1?
    • Cummings LM, Glatfelter A, Marchuk DA (1993) NF1-related loci on chromosomes 2, 12, 14, 15, 20, 21, and 22: a potentional role of gene conversion in the high spontaneous mutation rate of NF1? Am J Hum Genet 53:672A
    • (1993) Am J Hum Genet , vol.53
    • Cummings, L.M.1    Glatfelter, A.2    Marchuk, D.A.3
  • 7
    • 0028345761 scopus 로고
    • Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence
    • Eikenboom JCJ, Vink T, Briët E, Sixma JJ, Reitsma PH (1994) Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence. Proc Natl Acad Sci USA 91: 2221-2224
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 2221-2224
    • Eikenboom, J.C.J.1    Vink, T.2    Briët, E.3    Sixma, J.J.4    Reitsma, P.H.5
  • 8
    • 0021381028 scopus 로고
    • Addendum: A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity
    • Feinberg AP, Vogelstein B (1984) Addendum: a technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 137:266-267
    • (1984) Anal Biochem , vol.137 , pp. 266-267
    • Feinberg, A.P.1    Vogelstein, B.2
  • 9
    • 0027434848 scopus 로고
    • Detection of a neurofibromatosis type 1 (NF1) homologous sequence by PCR: Implications for the diagnosis and screening of genetic diseases
    • Gasparini P, Grifa A, Origone P, Coviello D, Antonacci R, Rocchi M (1993) Detection of a neurofibromatosis type 1 (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases. Mol Cell Probes 7:415-418
    • (1993) Mol Cell Probes , vol.7 , pp. 415-418
    • Gasparini, P.1    Grifa, A.2    Origone, P.3    Coviello, D.4    Antonacci, R.5    Rocchi, M.6
  • 11
    • 0022547591 scopus 로고
    • Polymorphism of human Ia antigens: Gene conversion between two DR β loci results in a new HLA-D/DR specificity
    • Gorski J, Mach B (1986) Polymorphism of human Ia antigens: gene conversion between two DR β loci results in a new HLA-D/DR specificity. Nature 322:67-70
    • (1986) Nature , vol.322 , pp. 67-70
    • Gorski, J.1    Mach, B.2
  • 12
    • 0023623002 scopus 로고
    • Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia
    • Harada F, Kimura A, Iwanaga T, Shimozawa K, Yata J, Sasazuki T (1987) Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia. Proc Natl Acad Sci USA 84:8091-8094
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 8091-8094
    • Harada, F.1    Kimura, A.2    Iwanaga, T.3    Shimozawa, K.4    Yata, J.5    Sasazuki, T.6
  • 13
    • 0011944522 scopus 로고
    • Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: Possible gene conversion products
    • Higashi Y, Tanae A, Inoue H, Hiromasa T, Fuji-Kuriyama Y (1988) Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products. Proc Natl Acad Sci USA 85:7486-7490
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 7486-7490
    • Higashi, Y.1    Tanae, A.2    Inoue, H.3    Hiromasa, T.4    Fuji-Kuriyama, Y.5
  • 24
    • 0026542050 scopus 로고
    • A possible example of gene conversion with a common β-thalassemia mutation and Chi sequence present in the β-globin gene
    • Matsuno Y, Yamashiro Y, Yamamoto K, Hattori Y, Yamamoto K, Ohba Y, Miyayji T (1992) A possible example of gene conversion with a common β-thalassemia mutation and Chi sequence present in the β-globin gene. Hum Genet 88:357-358
    • (1992) Hum Genet , vol.88 , pp. 357-358
    • Matsuno, Y.1    Yamashiro, Y.2    Yamamoto, K.3    Hattori, Y.4    Yamamoto, K.5    Ohba, Y.6    Miyayji, T.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.