Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome

Human Mutation

Volumn 34, Issue 1, 2013, Pages 103-107

  Capo Chichi, José Mario ^a   Bharti, Sanjay Kumar ^b   Sommers, Joshua A ^b   Yammine, Tony ^c   Chouery, Eliane ^c   Patry, Lysanne ^a   Rouleau, Guy A ^d   Samuels, Mark E ^a,e   Hamdan, Fadi F ^a   Michaud, Jacques L ^a   Brosh Jr, Robert M ^b   Mégarbane, André ^c,f   Kibar, Zoha ^a,e  

^a UNIVERSITY OF MONTREAL   (Canada)

^b NATIONAL INSTITUTE ON AGING   (United States)

^c SAINT JOSEPH UNIVERSITY   (Lebanon)

^d NOTRE DAME HOSPITAL   (Canada)

^e UNIVERSITÉ DE MONTRÉAL   (Canada)

^f Institut Jerome Lejeune   (France)

Author keywords

DDX11; Helicase; WABS; Warsaw breakage syndrome

Indexed keywords

ADENOSINE TRIPHOSPHATE; HELICASE; MITOMYCIN;

ARTICLE; BIOCHEMISTRY; CASE REPORT; CELL CULTURE; CHROMOSOME BREAKAGE; CONGENITAL DISORDER; DDX11 GENE; DNA BINDING; ENZYME ACTIVITY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; LEBANON; LYMPHOCYTE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN HYDROLYSIS; WARSAW BREAKAGE SYNDROME;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOME BREAKAGE; CONSANGUINITY; DEAD-BOX RNA HELICASES; DNA HELICASES; EXOME; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 84871607211     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22226     Document Type: Article

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