A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 9, 2005, Pages 5386-5392

  Lemos, Manuel C ^a   Kotanko, Peter ^b   Christie, Paul T ^a   Harding, Brian ^a   Javor, Theodora ^b   Smith, Christine ^c   Eastell, Richard ^c   Thakker, Rajesh V ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY HOSPITAL GRAZ   (Austria)

^c UNIVERSITY OF SHEFFIELD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

25 HYDROXYVITAMIN D; ALKALINE PHOSPHATASE; CALCITRIOL; CALCIUM ION; CREATININE; DNA; MESSENGER RNA; OSTEOCALCIN; PARATHYROID HORMONE; PHOSPHATE;

ADULT; ARTICLE; BIOCHEMISTRY; BONE DENSITY; BONE METABOLISM; BONE RADIOGRAPHY; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXT1 GENE; FEMALE; FEMUR NECK; GENE; GENE MUTATION; HEREDITARY MULTIPLE EXOSTOSIS; HETEROZYGOSITY; HUMAN; INTRON; LUMBAR SPINE; MALE; OSTEOPOROSIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; SCORING SYSTEM; SEQUENCE ANALYSIS; SPLICEOSOME;

ADOLESCENT; ADULT; BONE DENSITY; CASE-CONTROL STUDIES; CYTOSINE; DNA, RECOMBINANT; EXOSTOSES, MULTIPLE HEREDITARY; FEMALE; FEMUR NECK; GUANINE; HETEROZYGOTE; HUMANS; INTRONS; LUMBAR VERTEBRAE; MALE; MIDDLE AGED; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; OSTEOPOROSIS; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 24344507232     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-2520     Document Type: Article

References (40)

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