SCREENING FOR TRUNCATED NF1 PROTEINS

被引:40
作者
HEIM, RA
SILVERMAN, LM
FARBER, RA
KAMMORGAN, LNW
LUCE, MC
机构
[1] UNIV N CAROLINA, DEPT PATHOL, CHAPEL HILL, NC 27599 USA
[2] ROCHE BIOMED LABS, RES TRIANGLE PK, NC 27709 USA
关键词
D O I
10.1038/ng1194-218
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:218 / 219
页数:2
相关论文
共 9 条
[1]   Growth rate characteristics of acoustic neuromas associated with neurofibromatosis type 2 [J].
Abaza, MM ;
Makariou, E ;
Armstrong, M ;
Lalwani, AK .
LARYNGOSCOPE, 1996, 106 (06) :694-699
[2]   A MAJOR SEGMENT OF THE NEUROFIBROMATOSIS TYPE-1 GENE - CDNA SEQUENCE, GENOMIC STRUCTURE, AND POINT MUTATIONS [J].
CAWTHON, RM ;
WEISS, R ;
XU, GF ;
VISKOCHIL, D ;
CULVER, M ;
STEVENS, J ;
ROBERTSON, M ;
DUNN, D ;
GESTELAND, R ;
OCONNELL, P ;
WHITE, R .
CELL, 1990, 62 (01) :193-201
[3]   THE RAPID DETECTION OF UNKNOWN MUTATIONS IN NUCLEIC-ACIDS [J].
GROMPE, M .
NATURE GENETICS, 1993, 5 (02) :111-117
[4]  
KORF BR, 1994, GENETIC ANAL CONSORT, V2
[5]   MOLECULAR DIAGNOSIS OF FAMILIAL ADENOMATOUS POLYPOSIS [J].
POWELL, SM ;
PETERSEN, GM ;
KRUSH, AJ ;
BOOKER, S ;
JEN, J ;
GIARDIELLO, FM ;
HAMILTON, SR ;
VOGELSTEIN, B ;
KINZLER, KW .
NEW ENGLAND JOURNAL OF MEDICINE, 1993, 329 (27) :1982-1987
[6]   PROTEIN TRUNCATION TEST (PTT) FOR RAPID DETECTION OF TRANSLATION-TERMINATING MUTATIONS [J].
ROEST, PAM ;
ROBERTS, RG ;
SUGINO, S ;
VANOMMEN, GJB ;
DENDUNNEN, JT .
HUMAN MOLECULAR GENETICS, 1993, 2 (10) :1719-1721
[7]   MOLECULAR-BASIS OF NEUROFIBROMATOSIS TYPE-1 (NF1) - MUTATION ANALYSIS AND POLYMORPHISMS IN THE NF1 GENE [J].
UPADHYAYA, M ;
SHAW, DJ ;
HARPER, PS .
HUMAN MUTATION, 1994, 4 (02) :83-101
[8]   DELETIONS AND A TRANSLOCATION INTERRUPT A CLONED GENE AT THE NEUROFIBROMATOSIS TYPE-1 LOCUS [J].
VISKOCHIL, D ;
BUCHBERG, AM ;
XU, GF ;
CAWTHON, RM ;
STEVENS, J ;
WOLFF, RK ;
CULVER, M ;
CAREY, JC ;
COPELAND, NG ;
JENKINS, NA ;
WHITE, R ;
OCONNELL, P .
CELL, 1990, 62 (01) :187-192
[9]   TYPE-1 NEUROFIBROMATOSIS GENE - IDENTIFICATION OF A LARGE TRANSCRIPT DISRUPTED IN 3 NF1 PATIENTS [J].
WALLACE, MR ;
MARCHUK, DA ;
ANDERSEN, LB ;
LETCHER, R ;
ODEH, HM ;
SAULINO, AM ;
FOUNTAIN, JW ;
BRERETON, A ;
NICHOLSON, J ;
MITCHELL, AL ;
BROWNSTEIN, BH ;
COLLINS, FS .
SCIENCE, 1990, 249 (4965) :181-186