Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound Heterozygous ATR Mutations

Human Mutation

Volumn 34, Issue 2, 2013, Pages 374-384

  Mokrani Benhelli, Houda ^a,b   Gaillard, Laetitia ^a,b   Biasutto, Patricia ^c   Le Guen, Tangui ^a,b   Touzot, Fabien ^a,b,d   Vasquez, Nadia ^e   Komatsu, Jun ^c   Conseiller, Emmanuel ^c   Pïcard, Capucine ^b,d,f   Gluckman, Eliane ^b   Francannet, Christine ^g   Fischer, Alain ^a,b,d   Durandy, Anne ^a,b,d   Soulier, Jean ^e   de Villartay, Jean Pierre ^a,b,d   Cavazzana Calvo, Marina ^a,b,d   Revy, Patrick ^a,b  

^a INSERM   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c Genomic Vision   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e SAINT LOUIS HOSPITAL   (France)

^f IMAGINE INSTITUTE   (France)

^g HÔTEL DIEU   (France)

Author keywords

ATR; DNA replication; Genomic instability; Primary microcephaly; Seckel syndrome

Indexed keywords

ATR PROTEIN; DNA;

ALLELE; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DNA REPLICATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENOMIC INSTABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; MICROCEPHALY; MISSENSE MUTATION; PRESCHOOL CHILD; PRIMARY MICROCEPHALY; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ALLELES; ANIMALS; BASE SEQUENCE; BLOTTING, WESTERN; CELL CYCLE PROTEINS; CELL LINE; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; DNA BREAKS, DOUBLE-STRANDED; DNA REPLICATION; DNA, SINGLE-STRANDED; DNA-BINDING PROTEINS; FEMALE; FIBROBLASTS; FLUORESCENT ANTIBODY TECHNIQUE; GENE DELETION; GENOME-WIDE ASSOCIATION STUDY; GENOMIC INSTABILITY; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MICE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROTEIN-SERINE-THREONINE KINASES; RNA SPLICING; SIGNAL TRANSDUCTION; TUMOR SUPPRESSOR PROTEINS;

ATAXIA TELANGIECTASIA;

EID: 84873088292     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22245     Document Type: Article

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