Complete COL1A1 allele deletions in osteogenesis imperfecta

Genetics in Medicine

Volumn 12, Issue 11, 2010, Pages 736-741

  Van Dijk, Fleur S ^a   Huizer, Margriet ^a   Kariminejad, Ariana ^b   Marcelis, Carlo L ^c   Plomp, Astrid S ^d   Terhal, Paulien A ^e   Meijers Heijboer, Hanne ^a   Weiss, Marjan M ^a   Van Rijn, Rick R ^d   Cobben, Jan M ^d   Pals, Gerard ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Kariminejad Najmabadi Pathology and Genetics Center   (Iran)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

COL1A1; collagen; deletion; MLPA; osteogenesis imperfecta

Indexed keywords

COLLAGEN TYPE 1;

ADULT; ALLELE; ARTICLE; CHILD; CHROMOSOME ABERRATION; CLINICAL ARTICLE; DISEASE SEVERITY; FAMILY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE DELETION; HUMAN; INFANT; MALE; MICROARRAY ANALYSIS; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; PHENOTYPE;

ADULT; ALLELES; CHILD; COLLAGEN TYPE I; FEMALE; FOUNDER EFFECT; GENE DELETION; HUMANS; INFANT; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; OSTEOGENESIS IMPERFECTA; PEDIGREE;

EID: 78649593446     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181f01617     Document Type: Article

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