RBPJ mutations identified in two families affected by Adams-Oliver syndrome

American Journal of Human Genetics

Volumn 91, Issue 2, 2012, Pages 391-395

  Hassed, Susan J ^a   Wiley, Graham B ^b   Wang, Shaofeng ^b   Lee, Ji Yun ^c   Li, Shibo ^a   Xu, Weihong ^a   Zhao, Zhizhuang J ^a   Mulvihill, John J ^a   Robertson, James ^b   Warner, James ^a   Gaffney, Patrick M ^b  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^b OKLAHOMA MEDICAL RESEARCH FOUNDATION   (United States)

^c Korea University College of Medicine   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; IMMUNOGLOBULIN J RECOMBINATION SIGNAL SEQUENCE BINDING PROTEIN; NOTCH RECEPTOR;

ADAMS OLIVER SYNDROME; ARTICLE; DNA BINDING; EXOME; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; TRANSCRIPTION REGULATION;

BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CHROMATIN IMMUNOPRECIPITATION; ECTODERMAL DYSPLASIA; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HOMEODOMAIN PROTEINS; HUMANS; IMMUNOGLOBULIN J RECOMBINATION SIGNAL SEQUENCE-BINDING PROTEIN; LIMB DEFORMITIES, CONGENITAL; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PROMOTER REGIONS, GENETIC; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, NOTCH; SCALP DERMATOSES;

EID: 84864946319     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.07.005     Document Type: Article

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