Bovine model of Marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1

Human Mutation

Volumn 25, Issue 4, 2005, Pages 348-352

  Singleton, Annie C ^a   Mitchell, Anna L ^b   Byers, Peter H ^a   Potter, Kathleen A ^c   Pace, James M ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b CASE WESTERN RESERVE UNIVERSITY   (United States)

^c WASHINGTON STATE UNIVERSITY   (United States)

Author keywords

Animal model; Bovine; cbEGF like domain; FBN1; Fibrillin 1; Marfan syndrome; MFS

Indexed keywords

CALCIUM BINDING PROTEIN; COMPLEMENTARY DNA; EPIDERMAL GROWTH FACTOR; FIBRILLIN 1; GENOMIC DNA; GLUTAMIC ACID; LYSINE;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; COW; DNA SEQUENCE; EXON; GENE MUTATION; HETEROZYGOSITY; MARFAN SYNDROME; MOSAICISM; NONHUMAN; PREDICTION; PRIORITY JOURNAL; PROTEIN DOMAIN; SPERM; VALIDATION PROCESS;

AMINO ACID SEQUENCE; ANIMALS; CALCIUM; CATTLE; DISEASE MODELS, ANIMAL; DNA, COMPLEMENTARY; EPIDERMAL GROWTH FACTOR; GERM-LINE MUTATION; HUMANS; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MOLECULAR SEQUENCE DATA; PROTEIN STRUCTURE, TERTIARY;

EID: 17144387530     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20152     Document Type: Article

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