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University of Arkansas for Medical Sciences
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Mutations in NOTCH1 cause aortic valve disease.
Garg V, Muth AN, Ransom JF, Schluterman MK, Barnes R, King IN, Grossfeld PD, Srivastava D. Mutations in NOTCH1 cause aortic valve disease. Nature. 2005 Sep 08; 437(7056):270-4.
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PubMed
subject areas
Adult
Animals
Aortic Valve
Base Sequence
Calcinosis
Child
Chromosomes, Human, Pair 9
Core Binding Factor Alpha 1 Subunit
COS Cells
DNA Mutational Analysis
Female
Gene Expression Regulation, Developmental
Heart Valve Diseases
Humans
In Situ Hybridization
Lod Score
Male
Mice
Mutation
Neoplasm Proteins
Pedigree
Phenotype
Receptor, Notch1
Receptors, Cell Surface
Repressor Proteins
RNA, Messenger
Transcription Factors
authors with profiles
Marie Burdine