Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS)

Human Mutation

Volumn 30, Issue 6, 2009, Pages 995-1002

  Mitchell, Anna L ^a,c,d   Schwarze, Ulrike ^b   Jennings, Jessica F ^b   Byers, Peter H ^a,b  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d CASE WESTERN RESERVE UNIVERSITY   (United States)

Author keywords

Classical Ehlers Danlos syndrome; COL5A1; COL5A2; EDS; G530S; Haploinsufficiency; Type V collagen

Indexed keywords

COLLAGEN TYPE 5; GENOMIC DNA; RNA;

ARTICLE; COL5A1 GENE; COL5A2 GENE; CONTROLLED STUDY; EHLERS DANLOS SYNDROME; GENE; GENE DELETION; GENE EXPRESSION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENETIC DISORDER; HAPLOINSUFFICIENCY; HUMAN; HUMAN CELL; JOINT HYPERMOBILITY; MAJOR CLINICAL STUDY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SKIN FIBROBLAST; WOUND HEALING;

ALLELES; COLLAGEN TYPE V; DNA, COMPLEMENTARY; EHLERS-DANLOS SYNDROME; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; GENE FREQUENCY; GENOME, HUMAN; HUMANS; MUTATION; RNA SPLICE SITES; RNA SPLICING; SEQUENCE ANALYSIS, DNA;

EID: 66349135911     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21000     Document Type: Article

References (20)

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