A polyadenylation site variant causes transcriptspecific BMP1 deficiency and frequent fractures in children

Human Molecular Genetics

Volumn 24, Issue 2, 2015, Pages 516-524

  Fahiminiya, Somayyeh ^a   Al Jallad, Hadil ^b   Majewski, Jacek ^a   Palomo, Telma ^b   Moffatt, Pierre ^a,b   Roschger, Paul ^c   Klaushofer, Klaus ^c   Glorieux, Francis H ^a,b   Rauch, Frank ^a,b  

^a MCGILL UNIVERSITY   (Canada)

^b SHRINERS HOSPITAL FOR CHILDREN   (Canada)

^c HANUSCH HOSPITAL   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

PAMIDRONIC ACID; PROCOLLAGEN C PROTEINASE; ZOLEDRONIC ACID; 3' UNTRANSLATED REGION; COLLAGEN TYPE 1;

3' UNTRANSLATED REGION; ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BONE DENSITY; BONE FRAGILITY; BONE MATRIX; BONE MINERALIZATION; CANADIAN; CHILD; CLAVICLE FRACTURE; CLINICAL ARTICLE; COMPRESSION FRACTURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CORTICAL BONE; ENZYME DEFICIENCY; EXOME; EXON; FEMALE; FIBULA FRACTURE; FINGER FRACTURE; FRACTURE; FRENCHMAN; GENOME ANALYSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; ILIAC BONE; IMAGING; MALE; MISSENSE MUTATION; MORPHOMETRICS; OSSIFICATION; PHENOTYPE; POLYADENYLATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROCOLLAGEN C PROTEINASE DEFICIENCY; RADIUS FRACTURE; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SKIN FIBROBLAST; SPINE FRACTURE; SPINE RADIOGRAPHY; SPLICING DEFECT; SUPERNATANT; TIBIA FRACTURE; TOE FRACTURE; TOE INJURY; ULNA FRACTURE; WRIST FRACTURE; BONE DISEASE; DEFICIENCY; GENETICS; INFANT; METABOLISM;

3' UNTRANSLATED REGIONS; BONE DISEASES; BONE MORPHOGENETIC PROTEIN 1; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE I; EXONS; FEMALE; FRACTURES, BONE; HUMANS; INFANT; MALE; POLYADENYLATION;

EID: 84922462877     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu471     Document Type: Article

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