A landscape of germ line mutations in a cohort of inherited bone marrow failure patients

Blood

Volumn 131, Issue 7, 2018, Pages 717-732

  Bluteau, Olivier ^a,b   Sebert, Marie ^a,b   Leblanc, Thierry ^c   De Latour, Régis Peffault ^a,b,d   Quentin, Samuel ^a   Lainey, Elodie ^c   Hernandez, Lucie ^a,b   Dalle, Jean Hugues ^a,c   De Fontbrune, Flore Sicre ^a   Lengline, Etienne ^a   Itzykson, Raphael ^a,b   Clappier, Emmanuelle ^a,b   Boissel, Nicolas ^a,b   Vasquez, Nadia ^a   Costa, Mélanie Da ^a   Masliah Planchon, Julien ^b   Cuccuini, Wendy ^a   Raimbault, Anna ^a,b   De Jaegere, Louis ^b   Adès, Lionel ^a   Fenaux, Pierre ^a   Maury, Sébastien ^e   Schmitt, Claudine ^f,g   Muller, Marc ^f,g   Domenech, Carine ^h   Blin, Nicolas ⁱ   Bruno, Bénédicte ^j   Pellier, Isabelle ^d,k   Hunault, Mathilde ^d,k   Blanche, Stéphane ^l,m   Petit, Arnaud ⁿ   Leverger, Guy ⁿ   Michel, Gérard ^o,p   Bertrand, Yves ^h   Baruchel, André ^a,b,c   Socié, Gérard ^a,d   Soulier, Jean ^a,b   more..

^a SAINT LOUIS HOSPITAL   (France)

^b UNIVERSITÉ PARIS DIDEROT   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d INSERM   (France)

^e HENRI MONDOR HOSPITAL   (France)

^f Hematology Pediatrics Department   (France)

^g UNIVERSITY HOSPITAL OF NANCY   (France)

^h UNIVERSITÉ LYON 1   (France)

ⁱ NANTES UNIVERSITY HOSPITAL   (France)

^j LILLE UNIVERSITY HOSPITAL   (France)

^k ANGERS UNIVERSITY HOSPITAL   (France)

^l HÔPITAL NECKER ENFANTS MALADES   (France)

^m UNIVERSITÉ PARIS DESCARTES   (France)

ⁿ ARMAND TROUSSEAU HOSPITAL   (France)

^o TIMONE HOSPITAL   (France)

^p AIX MARSEILLE UNIVERSITY   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MDS1 AND EVI1 COMPLEX LOCUS PROTEIN; TRANSCRIPTION FACTOR GATA 2; TRANSCRIPTION FACTOR RUNX1;

ADOLESCENT; ADULT; ALLELE; ALLELIC IMBALANCE; APLASTIC ANEMIA; ARTICLE; BLAST CELL; BONE MARROW BIOPSY; BONE MARROW DEPRESSION; CHILD; COHORT ANALYSIS; CONSANGUINITY; CYTOPENIA; DISEASE SEVERITY; DNA REPAIR; DNAJC21 GENE; ERCC6L2 GENE; FAMILY COUNSELING; FEMALE; FIBROBLAST; GENE; GENE FREQUENCY; GENETIC VARIABILITY; GERMLINE MUTATION; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN CELL; HUMAN TISSUE; INHERITED BONE MARROW FAILURE; LIG4 GENE; MAJOR CLINICAL STUDY; MALE; MONOSOMY 7; MULTICENTER STUDY; MYELODYSPLASTIC SYNDROME; NUCLEAR LOCALIZATION SIGNAL; PANCYTOPENIA; PATIENT CARE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; RPL5 GENE; RTEL1 GENE; SAMD9 GENE; SAMD9L GENE; SANGER SEQUENCING; SBDS GENE; SHORT STATURE; SKIN BIOPSY; TERC GENE; TERT GENE; WHOLE EXOME SEQUENCING; BONE MARROW DISEASE; DNA MUTATIONAL ANALYSIS; GENETICS; INFANT; NEWBORN; PRESCHOOL CHILD;

ADOLESCENT; BONE MARROW DISEASES; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GERM-LINE MUTATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INFANT, NEWBORN; MALE; MYELODYSPLASTIC SYNDROMES; WHOLE EXOME SEQUENCING;

EID: 85042166620     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2017-09-806489     Document Type: Article

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