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
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
  • [1] SOMATIC AND MEN 2A DE-NOVO MUTATIONS IDENTIFIED IN THE RET PROTOONCOGENE BY SCREENING OF SPORADIC MTC-S
    ZEDENIUS, J
    WALLIN, G
    HAMBERGER, B
    NORDENSKJOLD, M
    WEBER, G
    LARSSON, C
    HUMAN MOLECULAR GENETICS, 1994, 3 (08) : 1259 - 1262
  • [2] 2 MATERNALLY DERIVED MISSENSE MUTATIONS IN THE TYROSINE KINASE DOMAIN OF THE RET PROTOONCOGENE IN A PATIENT WITH DE-NOVO MEN-2B
    KITAMURA, Y
    SCAVARDA, N
    WELLS, SA
    JACKSON, CE
    GOODFELLOW, PJ
    HUMAN MOLECULAR GENETICS, 1995, 4 (10) : 1987 - 1988
  • [3] DE-NOVO MUTATIONS OF THE RET PROTOONCOGENE IN HIRSCHSPRUNGS-DISEASE
    PELET, A
    ATTIE, T
    GOULET, O
    ENG, C
    PONDER, BAJ
    MUNNICH, A
    LYONNET, S
    LANCET, 1994, 344 (8939-4): : 1769 - 1770
  • [4] MUTATIONS IN THE RET PROTOONCOGENE ARE ASSOCIATED WITH MEN 2A AND FMTC
    DONISKELLER, H
    DOU, SS
    CHI, D
    CARLSON, KM
    TOSHIMA, K
    LAIRMORE, TC
    HOWE, JR
    MOLEY, JF
    GOODFELLOW, P
    WELLS, SA
    HUMAN MOLECULAR GENETICS, 1993, 2 (07) : 851 - 856
  • [5] RET PROTOONCOGENE MUTATIONS IN FRENCH MEN 2A AND FMTC FAMILIES
    SCHUFFENECKER, I
    BILLAUD, M
    CALENDER, A
    CHAMBE, B
    GINET, N
    CALMETTES, C
    MODIGLIANI, E
    LENOIR, GM
    HUMAN MOLECULAR GENETICS, 1994, 3 (11) : 1939 - 1943
  • [6] Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: Two novel mutations and one de novo mutation for MEN 2A
    Landsvater, RM
    Jansen, RPM
    Hofstra, RMW
    Buys, CHCM
    Lips, CJM
    vanAmstel, HKP
    HUMAN GENETICS, 1996, 97 (01) : 11 - 14
  • [7] IDENTIFICATION AND CHARACTERIZATION OF MUTATIONS IN THE RET PROTOONCOGENE ASSOCIATED WITH MEN 2A
    GOODFELLOW, PJ
    PEIFFER, S
    DONISKELLER, H
    WELLS, S
    SIMPSON, NE
    JACKSONS, CE
    KIDD, KK
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 167 - 167
  • [8] GERMLINE MUTATIONS OF THE RET PROTOONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A, (MEN 2A)
    MULLIGAN, LM
    KWOK, JBJ
    HEALEY, CS
    GARDNER, E
    PONDER, MA
    PONDER, BAJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 168 - 168
  • [9] A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene
    Tessitore, A
    Sinisi, AA
    Pasquali, D
    Cardone, M
    Vitale, D
    Bellastella, A
    Colantuoni, V
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1999, 84 (10): : 3522 - 3527
  • [10] Pheochromocytoma penetrance varies by RET mutation in MEN 2A
    Quayle, Frank J.
    Fialkowski, Elizabeth A.
    Benveniste, Ronald
    Moley, Jeffrey F.
    SURGERY, 2007, 142 (06) : 800 - 805