A DE-NOVO MUTATION OF THE RET PROTOONCOGENE IN A PATIENT WITH MEN 2A

被引：30
|
作者：
MULLIGAN, LM
ENG, C
HEALEY, CS
PONDER, MA
FELDMAN, GL
LI, PZ
JACKSON, CE
PONDER, BAJ
机构：
[1] UNIV CAMBRIDGE,DEPT PATHOL,CRC,HUMAN CANC GENET RES GRP,CAMBRIDGE CB2 1QP,CAMBS,ENGLAND
[2] HARVARD UNIV,SCH MED,DANA FARBER CANC INST,DEPT MED,BOSTON,MA 02115
[3] HENRY FORD HOSP,CTR MED GENET BIRTH DEFECTS,DETROIT,MI 48202
[4] HENRY FORD HOSP,DEPT MED,DETROIT,MI 48202
来源：
HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 06期
关键词：
D O I：
10.1093/hmg/3.6.1007
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
引用
收藏
页码：1007 / 1008
页数：2
相关论文
共 50 条
  • [31] De novo mutation in von Willebrand disease type 2A
    Legdeur, M.
    Eckmann, C.
    Plomp, A.
    Peters, M.
    HAEMOPHILIA, 2012, 18 : 197 - 197
  • [32] V804M RET mutation in MEN 2A: first report
    Scacheri, PC
    Crabtree, JS
    Kennedy, AL
    Swain, GP
    Ward, JM
    Marx, SJ
    Spiegel, AM
    Collins, FS
    JOURNAL OF INTERNAL MEDICINE, 2004, 255 (06) : 712 - 712
  • [33] Nucleophosmin mutation in de-novo acute myeloid leukemia
    Rastogi, Pulkit
    Naseem, Shano
    Varma, Neelam
    Varma, Subhash
    ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY, 2016, 12 (01) : 77 - 85
  • [34] De novo RET proto oncogene mutation in a patient with multiple endocrine neoplasia type 2B
    Chang, TJ
    Wu, SL
    Chang, TC
    Huang, SH
    Chang, TJ
    JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION, 1999, 98 (10) : 692 - 697
  • [35] A novel germline mutation (p.ArgSS2Gln) of the RET protooncogene in a patient with MTC
    GroB, U. S.
    Drexler, H. H. S.
    Diederich, S.
    Mann, W. A.
    Schulte, H. M.
    EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, 2007, 37 : 81 - 82
  • [36] GERMLINE MUTATIONS OF THE RET PROTOONCOGENE IN 8 JAPANESE PATIENTS WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A (MEN2A)
    TAKAMI, H
    HIKIJI, K
    NAKAMURA, Y
    HUMAN GENETICS, 1995, 95 (02) : 187 - 190
  • [37] THE RET PROTOONCOGENE MEN 2B POINT MUTATION ENHANCES THE TRANSFORMING CAPACITY OF THE EGF RECEPTOR
    PANDIT, SD
    PIKE, LJ
    DONISKELLER, H
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1436 - 1436
  • [38] A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype
    Romaniello, Romina
    Saettini, Francesco
    Panzeri, Elena
    Arrigoni, Filippo
    Bassi, Maria T.
    Borgatti, Renato
    NEUROREPORT, 2015, 26 (05) : 254 - 257
  • [39] MECHANISM OF ACTIVATION OF THE RET PROTOONCOGENE BY MULTIPLE ENDOCRINE NEOPLASIA 2A MUTATIONS
    ASAI, N
    IWASHITA, T
    MATSUYAMA, M
    TAKAHASHI, M
    MOLECULAR AND CELLULAR BIOLOGY, 1995, 15 (03) : 1613 - 1619
  • [40] FREQUENT RET PROTOONCOGENE MUTATIONS IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A
    QUADRO, L
    PANARIELLO, L
    SALVATORE, D
    CARLOMAGNO, F
    DELPRETE, M
    NUNZIATA, V
    COLANTUONI, V
    DIGIOVANNI, G
    BRANDI, ML
    MANNELLI, M
    GHERI, R
    VERGA, U
    LIBROIA, A
    BERGER, N
    FUSCO, A
    GRIECO, M
    SANTORO, M
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1994, 79 (02): : 590 - 594
12345