Type I Procollagen C-Propeptide Defects: Study of Genotype-Phenotype Correlation and Predictive Role of Crystal Structure

Human Mutation

Volumn 35, Issue 11, 2014, Pages 1330-1341

  Symoens, Sofie ^a   Hulmes, David J S ^b   Bourhis, Jean Marie ^c   Coucke, Paul J ^a   De Paepe, Anne ^a   Malfait, Fransiska ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITÉ LYON 1   (France)

^c UNIV GRENOBLE ALPES   (France)

Author keywords

C propeptide; COL1A1, COL1A2; Genotype phenotype; Osteogenesis imperfecta; Type I procollagen; Unfolded protein response

Indexed keywords

PEPTIDE DERIVATIVE; PROCOLLAGEN; TYPE 1 PROCOLLAGEN C PROPEPTIDE; UNCLASSIFIED DRUG; ALPHA 2(I) COLLAGEN; COLLAGEN TYPE 1; COLLAGEN TYPE I, ALPHA 1 CHAIN; PEPTIDE FRAGMENT;

ARTICLE; CLINICAL ARTICLE; CRYSTAL STRUCTURE; DISEASE SEVERITY; EXON; FRAMESHIFT MUTATION; GENE MAPPING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; PROTEIN ASSEMBLY; PROTEIN DEFECT; PROTEIN DOMAIN; PROTEIN STRUCTURE; STOP CODON; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CHEMICAL STRUCTURE; CHEMISTRY; DEFICIENCY; GENETIC ASSOCIATION; GENETICS; GENOTYPE; INDEL MUTATION; MISSENSE MUTATION; MOLECULAR GENETICS; PHENOTYPE; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; STRUCTURE ACTIVITY RELATION;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; COLLAGEN TYPE I; EXONS; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INDEL MUTATION; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OSTEOGENESIS IMPERFECTA; PEPTIDE FRAGMENTS; PHENOTYPE; PROCOLLAGEN; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 84917682219     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22677     Document Type: Article

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