Broader geographical spectrum of Cohen syndrome due to COH1 mutations -: art. no. e87

被引:27
作者
Mochida, GH
Rajab, A
Eyaid, W
Lu, A
Al-Nouri, D
Kosaki, K
Noruzinia, M
Sarda, P
Ishihara, J
Bodell, A
Apse, K
Walsh, CA
机构
[1] Beth Israel Deaconess Med Ctr, Howard Hughes Med Inst, Boston, MA 02115 USA
[2] Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USA
[3] Massachusetts Gen Hosp, Dept Neurol, Pediat Neurol Unit, Boston, MA 02114 USA
[4] Minist Hlth, DGHA, Genet Unit, Muscat, Oman
[5] King Fahd Natl Guard Hosp, Dept Genet & Paediat Endocrinol, Riyadh, Saudi Arabia
[6] Harvard Univ, Sch Med, Program Neurosci, Boston, MA 02115 USA
[7] Keio Univ, Sch Med, Dept Pediat, Tokyo, Japan
[8] Arnaud Villeneuve Hosp, Dept Human Genet, Montpellier, France
[9] Yokohama Citizens Hosp, Dept Pediat, Yokohama, Kanagawa, Japan
关键词
D O I
10.1136/jmg.2003.014779
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
页数:4
相关论文
共 9 条
[1]   Differential distribution of the glutamate transporters GLT-1 and GLAST in tanycytes of the third ventricle [J].
Berger, UV ;
Hediger, MA .
JOURNAL OF COMPARATIVE NEUROLOGY, 2001, 433 (01) :101-114
[2]   Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome [J].
Chandler, KE ;
Kidd, A ;
Al-Gazali, L ;
Kolehmainen, J ;
Lehesjoki, AE ;
Black, GCM ;
Clayton-Smith, J .
JOURNAL OF MEDICAL GENETICS, 2003, 40 (04) :233-241
[3]  
COHEN MM, 1973, J PEDIATR-US, V83, P280
[4]  
Kivitie-Kallio S, 2001, AM J MED GENET, V102, P125, DOI 10.1002/1096-8628(20010801)102:2<125::AID-AJMG1439>3.0.CO
[5]  
2-0
[6]   Refined mapping of the Cohen syndrome gene by linkage disequilibrium [J].
Kolehmainen, J ;
Norio, R ;
KivitieKallio, S ;
Tahvanainen, E ;
delaChapelle, A ;
Lehesjoki, AE .
EUROPEAN JOURNAL OF HUMAN GENETICS, 1997, 5 (04) :206-213
[7]   Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport [J].
Kolehmainen, J ;
Black, GCM ;
Saarinen, A ;
Chandler, K ;
Clayton-Smith, J ;
Träskelin, AL ;
Perveen, R ;
Kivitie-Kallio, S ;
Norio, R ;
Warburg, M ;
Fryns, JP ;
de la Chapelle, A ;
Lehesjoki, AE .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (06) :1359-1369
[8]   A KNOWLEDGE BASE FOR PREDICTING PROTEIN LOCALIZATION SITES IN EUKARYOTIC CELLS [J].
NAKAI, K ;
KANEHISA, M .
GENOMICS, 1992, 14 (04) :897-911
[9]   COHEN SYNDROME GENE ASSIGNED TO THE LONG ARM OF CHROMOSOME-8 BY LINKAGE ANALYSIS [J].
TAHVANAINEN, E ;
NORIO, R ;
KARILA, E ;
RANTA, S ;
WEISSENBACH, J ;
SISTONEN, P ;
DELACHAPELLE, A .
NATURE GENETICS, 1994, 7 (02) :201-204