Y-position cysteine substitution in type I collagen (α1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos Syndrome phenotype

Human Mutation

Volumn 28, Issue 4, 2007, Pages 396-405

  Cabral, Wayne A ^a   Makareeva, Elena ^a   Letocha, Anne D ^a   Scribanu, Nina ^b   Fertala, Andrzej ^c   Steplewski, Andrzej ^c   Keene, Douglas R ^d   Persikov, Anton V ^e,f   Leikin, Sergey ^a   Marini, Joan C ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^f PRINCETON UNIVERSITY   (United States)

Author keywords

COL1A1; Collagen kinking; Ehlers Danlos syndrome (EDS); N propeptide processing; Osteogenesis imperfecta (OI)

Indexed keywords

ARGININE; COLLAGEN TYPE 1; COLLAGEN TYPE 1ALPHA; CYSTEINE; DIMER; MONOMER; N PROTEINASE; PROLINE; PROTEINASE; UNCLASSIFIED DRUG;

ADULT; ALLELE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CALCULATION; CASE REPORT; CLINICAL FEATURE; COL1A1 GENE; CROSS LINKING; DENSITY; DIFFERENTIAL SCANNING CALORIMETRY; DIMERIZATION; DUAL ENERGY X RAY ABSORPTIOMETRY; EHLERS DANLOS SYNDROME; FRACTURE; GENE; HUMAN; HUMAN CELL; JOINT HYPERMOBILITY; MALE; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN DENATURATION; SCHOOL CHILD; STEADY STATE; THERMOGRAPHY;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CELLS, CULTURED; CHILD; COLLAGEN TYPE I; CYSTEINE; DIMERIZATION; EHLERS-DANLOS SYNDROME; HUMANS; INFANT; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MUTATION, MISSENSE; OSTEOGENESIS IMPERFECTA; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, PROTEIN;

EID: 34047239243     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20456     Document Type: Article

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