EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

European Journal of Human Genetics

Volumn 20, Issue 1, 2012, Pages 11-19

  Van Dijk, Fleur S ^a   Byers, Peter H ^b   Dalgleish, Raymond ^c   Malfait, Fransiska ^d   Maugeri, Alessandra ^a   Rohrbach, Marianne ^e   Symoens, Sofie ^d   Sistermans, Erik A ^a   Pals, Gerard ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF WASHINGTON   (United States)

^c UNIVERSITY OF LEICESTER   (United Kingdom)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

^e UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

best practice; diagnosis; EMQN; osteogenesis imperfecta; reporting; type I (pro)collagen

Indexed keywords

COLLAGEN TYPE 1; COMPLEMENTARY DNA; CYCLOPHILIN B; HEAT SHOCK PROTEIN 47; PIGMENT EPITHELIUM DERIVED FACTOR; TRANSCRIPTION FACTOR OSTERIX;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; COL1A1 GENE; COL1A2 GENE; CRTAP GENE; FKBP10 GENE; GEL ELECTROPHORESIS; GENE; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; LABORATORY DIAGNOSIS; LEPRE1 GENE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; PLOD2 GENE; PPIB GENE; PRACTICE GUIDELINE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SERPINF1 GENE; SERPINH1 GENE;

COLLAGEN TYPE I; FIBROBLASTS; GENETIC COUNSELING; GENETIC DISEASES, INBORN; GENETIC TESTING; HETEROZYGOTE; HUMANS; INHERITANCE PATTERNS; MUTATION; OSTEOGENESIS IMPERFECTA; PREIMPLANTATION DIAGNOSIS; PRENATAL DIAGNOSIS;

EID: 83255194118     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.141     Document Type: Article

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