A MISSENSE MUTATION CONFIRMS THE L1 DEFECT IN X-LINKED HYDROCEPHALUS (HSAS)

被引:64
作者
JOUET, M [1 ]
ROSENTHAL, A [1 ]
MACFARLANE, J [1 ]
KENWRICK, S [1 ]
DONNAI, D [1 ]
机构
[1] ST MARYS HOSP,MANCHESTER M13 0JH,LANCS,ENGLAND
关键词
D O I
10.1038/ng0893-331
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:331 / 331
页数:1
相关论文
共 9 条
[1]   DROSOPHILA NEUROGLIAN - A MEMBER OF THE IMMUNOGLOBULIN SUPERFAMILY WITH EXTENSIVE HOMOLOGY TO THE VERTEBRATE NEURAL ADHESION MOLECULE L1 [J].
BIEBER, AJ ;
SNOW, PM ;
HORTSCH, M ;
PATEL, NH ;
JACOBS, JR ;
TRAQUINA, ZR ;
SCHILLING, J ;
GOODMAN, CS .
CELL, 1989, 59 (03) :447-460
[2]   STRUCTURE OF THE CHICKEN NEURON-GLIA CELL-ADHESION MOLECULE, NG-CAM - ORIGIN OF THE POLYPEPTIDES AND RELATION TO THE IG SUPERFAMILY [J].
BURGOON, MP ;
GRUMET, M ;
MAURO, V ;
EDELMAN, GM ;
CUNNINGHAM, BA .
JOURNAL OF CELL BIOLOGY, 1991, 112 (05) :1017-1029
[3]   MOLECULAR-STRUCTURE AND FUNCTIONAL TESTING OF HUMAN L1CAM - AN INTERSPECIES COMPARISON [J].
HLAVIN, ML ;
LEMMON, V .
GENOMICS, 1991, 11 (02) :416-423
[4]  
JOUET M, 1993, J MED GENET, P214
[5]   MOLECULAR-CLONING OF CDNA-ENCODING THE RAT NEURAL CELL-ADHESION MOLECULE L1 - 2 L1 ISOFORMS IN THE CYTOPLASMIC REGION ARE PRODUCED BY DIFFERENTIAL SPLICING [J].
MIURA, M ;
KOBAYASHI, M ;
ASOU, H ;
UYEMURA, K .
FEBS LETTERS, 1991, 289 (01) :91-95
[6]   NEURAL ADHESION MOLECULE L1 AS A MEMBER OF THE IMMUNOGLOBULIN SUPERFAMILY WITH BINDING DOMAINS SIMILAR TO FIBRONECTIN [J].
MOOS, M ;
TACKE, R ;
SCHERER, H ;
TEPLOW, D ;
FRUH, K ;
SCHACHNER, M .
NATURE, 1988, 334 (6184) :701-703
[7]   ABERRANT SPLICING OF NEURAL CELL-ADHESION MOLECULE L1 MESSENGER-RNA IN A FAMILY WITH X-LINKED HYDROCEPHALUS [J].
ROSENTHAL, A ;
JOUET, M ;
KENWRICK, S .
NATURE GENETICS, 1992, 2 (02) :107-112
[8]   REGULATION OF AXONAL GROWTH IN THE VERTEBRATE NERVOUS-SYSTEM BY INTERACTIONS BETWEEN GLYCOPROTEINS BELONGING TO 2 SUBGROUPS OF THE IMMUNOGLOBULIN SUPERFAMILY [J].
SONDEREGGER, P ;
RATHJEN, FG .
JOURNAL OF CELL BIOLOGY, 1992, 119 (06) :1387-1394
[9]   X-LINKED HYDROCEPHALUS [J].
WILLEMS, PJ ;
BROUWER, OF ;
DIJKSTRA, I ;
WILMINK, J .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 27 (04) :921-928