A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proα 1 (I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases

Journal of Medical Genetics

Volumn 39, Issue 1, 2002, Pages 23-29

  Pace, J M ^a   Chitayat, D ^b   Atkinson, M ^a   Wilcox, W R ^c   Schwarze, U ^a   Byers, P H ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b MOUNT SINAI HOSPITAL   (Canada)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; COLLAGEN TYPE 1; PROCOLLAGEN; TYROSINE;

ALBERS SCHOENBERG DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOPSY; BONE DEFECT; BONE DENSITY; BONE MINERALIZATION; CASE REPORT; DYSOSTOSIS; EXTRAMEDULLARY HEMATOPOIESIS; FEMALE; FRACTURE; HUMAN; HUMAN TISSUE; JOINT CONTRACTURE; NEWBORN; OSTEOCLAST; OSTEOGENESIS IMPERFECTA; PHENOTYPE; PRIORITY JOURNAL; SKIN FIBROBLAST; THERMOSTABILITY;

AMINO ACID SUBSTITUTION; ASPARTIC ACID; BONE DENSITY; BONE DISEASES; CELL LINE; CELLS, CULTURED; COLLAGEN TYPE I; FEMALE; GENES, LETHAL; HUMANS; INFANT, NEWBORN; MUTATION; OSTEOGENESIS IMPERFECTA; PEPTIDE FRAGMENTS; PROCOLLAGEN; PROTEIN PROCESSING, POST-TRANSLATIONAL; TYROSINE;

EID: 0036150539     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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