Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")

Journal of Experimental Medicine

Volumn 209, Issue 13, 2012, Pages 2323-2330

  Schmid, Jana Pachlopnik ^a,b   Lemoine, Roxane ^a,b   Nehme, Nadine ^a,b   Cormier Daire, Valéry ^a,b   Revy, Patrick ^a,b   Debeurme, Franck ^a,b   Debré, Marianne ^a   Nitschke, Patrick ^b   Bole Feysot, Christine ^b   Legeai Mallet, Laurence ^a,b   Lim, Annick ^c   de Villartay, Jean Pierre ^a,b   Picard, Capucine ^a,b   Durandy, Anne ^a,b   Fischer, Alain ^a,b   de Saint Basile, Geneviève ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c INSTITUT PASTEUR   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED DNA POLYMERASE DELTA; DNA DIRECTED DNA POLYMERASE EPSILON; DNA POLYMERASE EPSILON 1; DNA POLYMERASE EPSILON 2; GENOMIC DNA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CARTILAGE CELL; CELL CYCLE G1 PHASE; CELL CYCLE PROGRESSION; CELL CYCLE S PHASE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SPLICING; FACE DYSMORPHIA; FEMALE; FILS SYNDROME; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; INTRON; LIVEDO RETICULARIS; LYMPHOCYTE PROLIFERATION; MALE; MALFORMATION SYNDROME; MUTATIONAL ANALYSIS; OSTEOBLAST; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; T LYMPHOCYTE;

ADOLESCENT; ADULT; ALTERNATIVE SPLICING; BASE SEQUENCE; BODY HEIGHT; CELL PROLIFERATION; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 12; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; DNA POLYMERASE II; FACIAL BONES; FEMALE; FRANCE; G1 PHASE CELL CYCLE CHECKPOINTS; GENE EXPRESSION; GENES, RECESSIVE; GROWTH DISORDERS; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INTRONS; LIVEDO RETICULARIS; MALE; PEDIGREE; POINT MUTATION; SYNDROME; YOUNG ADULT;

EID: 84871898628     PISSN: 00221007     EISSN: 15409538     Source Type: Journal    
DOI: 10.1084/jem.20121303     Document Type: Article

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