Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

Nature Genetics

Volumn 26, Issue 2, 2000, Pages 247-250

  Kutsche, Kerstin ^a   Yntema, Helger ^b   Brandt, Alexander ^a   Jantke, Inka ^a   Nothwang, Hans Gerd ^c   Orth, Ulrike ^a   Boavida, Maria G ^d   David, Dezsö ^d   Chelly, Jamel ^e   Fryns, Jean Pierre ^f   Moraine, Claude ^g   Ropers, Hans Hilger ^c   Hamel, Ben C J ^b   Van Bokhoven, Hans ^b   Gal, Andreas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^e Université Paris Descartes   (France)

^f UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^g CHU BRETONNEAU   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE EXCHANGE FACTOR; GUANOSINE TRIPHOSPHATASE;

ARTICLE; CHROMOSOME TRANSLOCATION 21; CHROMOSOME TRANSLOCATION X; CHROMOSOME XQ; EXON; GENE DISRUPTION; GENE MUTATION; GENE REARRANGEMENT; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; NETHERLANDS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; X CHROMOSOME LINKED DISORDER;

BASE SEQUENCE; CASE REPORT; CELL CYCLE PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 21; FEMALE; GENETIC MARKERS; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMAN; INTRONS; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RHO GTP-BINDING PROTEINS; SUPPORT, NON-U.S. GOV'T; TRANSLOCATION (GENETICS); X CHROMOSOME;

EID: 0033775672     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/80002     Document Type: Article

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