Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation

Human Genetics

Volumn 124, Issue 6, 2009, Pages 649-658

  Daoud, Hussein ^a   Gruchy, Nicolas ^b   Constans, Jean Marc ^b,c   Moussaoui, Edgar ^b   Saumureau, Simone ^d   Bayou, Nadia ^e   Amy, Maïté ^a   Védrine, Sylviane ^a   Vu, Phi Yen ^f   Röig, Agnès ^g   Laumonnier, Frédéric ^a   Vourc'h, Patrick ^a,h   Andres, Christian R ^a,h   Leporrier, Nathalie ^b   Briault, Sylvain ^a,i  

^a UNIVERSITÉ DE TOURS   (France)

^b CAEN UNIVERSITY HOSPITAL   (France)

^c UNIVERSITÉ DE CAEN   (France)

^d Centre Hospitalier Louis Pasteur   (France)

^e CHARLES NICOLLE HOSPITAL   (Tunisia)

^f BORDEAUX UNIVERSITY HOSPITAL   (France)

^g INSERM   (France)

^h UNIVERSITY HOSPITAL OF TOURS   (France)

ⁱ CENTRE HOSPITALIER RÉGIONAL D ORLÉANS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FLAVINE ADENINE NUCLEOTIDE; GLYCEROL 3 PHOSPHATE DEHYDROGENASE; GLYCEROPHOSPHATE; GLYCINE; LYSINE;

AMINO ACID SUBSTITUTION; ARTICLE; BIOINFORMATICS; CHROMOSOME 2Q; CHROMOSOME 7Q; CHROMOSOME ABERRATION; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION 2; CHROMOSOME TRANSLOCATION 7; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE ACTIVITY; GENE DISRUPTION; GENE LOCATION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; HUMAN TISSUE; KARYOTYPE 46,XX; LYMPHOBLASTOID CELL; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; MITOCHONDRIAL MEMBRANE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

BASE SEQUENCE; BRAIN; CELL LINE; CHILD; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 7; DNA BREAKS; DNA PRIMERS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GLYCEROLPHOSPHATE DEHYDROGENASE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MAGNETIC RESONANCE SPECTROSCOPY; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TRANSCRIPTION, GENETIC; TRANSLOCATION, GENETIC;

EID: 58049109948     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-008-0588-3     Document Type: Article

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