A single codon insertion in PICALM is associated with development of familial subvalvular aortic stenosis in Newfoundland dogs.

Stern, Joshua A; White, Stephen N; Lehmkuhl, Linda B; Reina-Doreste, Yamir; Ferguson, Jordan L; Nascone-Yoder, Nanette M; Meurs, Kathryn M

Stern, Joshua A; White, Stephen N; Lehmkuhl, Linda B; Reina-Doreste, Yamir; Ferguson, Jordan L; Nascone-Yoder, Nanette M; Meurs, Kathryn M.

Affiliation

Stern JA; Department of Clinical Sciences College of Veterinary Medicine, North Carolina State University, Raleigh, NC, 27607, USA, jstern@ucdavis.edu.

Hum Genet ; 133(9): 1139-48, 2014 Sep.

Article in En | MEDLINE | ID: mdl-24898977

Subject(s)

Aortic Stenosis, Subvalvular/veterinary; Codon; Dog Diseases/genetics; Monomeric Clathrin Assembly Proteins/genetics; Mutagenesis, Insertional; Animals; Aortic Stenosis, Subvalvular/genetics; Aortic Stenosis, Subvalvular/pathology; Base Sequence; Case-Control Studies; Clathrin/antagonists & inhibitors; Clathrin/genetics; Codon/genetics; Dog Diseases/pathology; Dogs; Female; Genetic Predisposition to Disease; Genome-Wide Association Study; Male; Molecular Sequence Data; Monomeric Clathrin Assembly Proteins/chemistry; Monomeric Clathrin Assembly Proteins/metabolism; Pedigree; Phosphatidylinositols/metabolism; Prospective Studies; Protein Conformation; Sequence Analysis, RNA; Sex Factors; Xenopus laevis/embryology

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aortic Stenosis, Subvalvular / Codon / Mutagenesis, Insertional / Monomeric Clathrin Assembly Proteins / Dog Diseases Type of study: Observational_studies / Prognostic_studies Limits: Animals Language: En Journal: Hum Genet Year: 2014 Document type: Article Country of publication: Germany

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