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RBPJ mutations identified in two families affected by Adams-Oliver syndrome.
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RBPJ mutations identified in two families affected by Adams-Oliver syndrome.
RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet. 2012 Aug 10; 91(2):391-5.
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PubMed
subject areas
Basic Helix-Loop-Helix Transcription Factors
Basic Helix-Loop-Helix Transcription Factors
Chromatin Immunoprecipitation
Chromatin Immunoprecipitation
Ectodermal Dysplasia
Ectodermal Dysplasia
Electrophoretic Mobility Shift Assay
Electrophoretic Mobility Shift Assay
Female
Female
Genetic Predisposition to Disease
Genetic Predisposition to Disease
HEK293 Cells
HEK293 Cells
Homeodomain Proteins
Homeodomain Proteins
Humans
Humans
Immunoglobulin J Recombination Signal Sequence-Binding Protein
Immunoglobulin J Recombination Signal Sequence-Binding Protein
Limb Deformities, Congenital
Limb Deformities, Congenital
Male
Male
Mutation
Mutation
Pedigree
Pedigree
Polymerase Chain Reaction
Polymerase Chain Reaction
Promoter Regions, Genetic
Promoter Regions, Genetic
Protein Structure, Tertiary
Protein Structure, Tertiary
Receptors, Notch
Receptors, Notch
Scalp Dermatoses
Scalp Dermatoses
Transcription Factor HES-1
Transcription Factor HES-1
authors with profiles
Patrick Gaffney
Zhizhuang Joe Zhao