Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease

被引:71
作者
Fitze, G
Schreiber, M
Kuhlisch, E
Schackert, HK
Roesner, D
机构
[1] Dresden Univ Technol, Dept Pediat Surg, D-01307 Dresden, Germany
[2] Dresden Univ Technol, Dept Surg Res, D-01307 Dresden, Germany
[3] Dresden Univ Technol, Inst Med Informat & Biometry, D-01307 Dresden, Germany
[4] Univ Erlangen Nurnberg, Dept Pediat Surg, D-8520 Erlangen, Germany
关键词
D O I
10.1086/302618
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:1469 / 1473
页数:5
相关论文
共 31 条
  • [1] MUTATION ANALYSIS OF THE RET RECEPTOR TYROSINE KINASE IN HIRSCHSPRUNG DISEASE
    ANGRIST, M
    BOLK, S
    THIEL, B
    PUFFENBERGER, EG
    HOFSTRA, RM
    BUYS, CHCM
    CASS, DT
    CHAKRAVARTI, A
    [J]. HUMAN MOLECULAR GENETICS, 1995, 4 (05) : 821 - 830
  • [2] Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease
    Auricchio, A
    Griseri, P
    Carpentieri, ML
    Betsos, N
    Staiano, A
    Tozzi, A
    Priolo, M
    Thompson, H
    Bocciardi, R
    Romeo, G
    Ballabio, A
    Ceccherini, I
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (04) : 1216 - 1221
  • [3] BADNER JA, 1990, AM J HUM GENET, V46, P568
  • [4] BOLINO A, 1995, ONCOGENE, V10, P2415
  • [5] Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease
    Borrego, S
    Eng, C
    Sánchez, B
    Sáez, ME
    Navarro, E
    Antiñolo, G
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1998, 83 (09) : 3361 - 3364
  • [6] Borrello MG, 1995, ONCOGENE, V11, P2419
  • [7] IDENTIFICATION OF A POLYMORPHISM IN EXON-11 OF THE RET PROTOONCOGENE
    BUGALHO, MJM
    COTE, GJ
    KHORANA, S
    SCHULTZ, PN
    GAGEL, RF
    [J]. HUMAN MOLECULAR GENETICS, 1994, 3 (12) : 2263 - 2263
  • [8] CARLSON KM, 1994, AM J HUM GENET, V55, P1076
  • [9] CECCHERINI I, 1994, ONCOGENE, V9, P3025
  • [10] Somatic in frame deletions not involving juxtamembranous cysteine residues strongly activate the RET proto-oncogene
    Ceccherini, I
    Pasini, B
    Pacini, F
    Gullo, M
    Bongarzone, I
    Romei, C
    Santamasia, G
    Matera, I
    Mondellini, P
    Scopsi, L
    Pinchera, A
    Pierotti, MA
    Romeo, G
    [J]. ONCOGENE, 1997, 14 (21) : 2609 - 2612