Journal article
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease
Nature genetics, Vol.26(1), pp.19-20
09/2000
DOI: 10.1038/79128
PMID: 10973241
Abstract
Camurati-Engelmann disease (CED, MIM 131300) is an autosomal dominant,
progressive diaphyseal dysplasia characterized by hyperosteosis and sclerosis
of the diaphyses of long bones. We recently assigned the CED
locus to an interval between D19S422 and D19S606 at chromosome
19q13.1-q13.3 (ref. 2), which two other
groups confirmed. As the human transforming growth factor-β1
gene (TGFB1) is located within this interval, we considered
it a candidate gene for CED.
Details
- Title: Subtitle
- Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease
- Creators
- Jeffrey C Murray - Department of Pediatrics and Biological Science, University of IowaHiro-aki Tomita - Department of Human Genetics, Nagasaki University School of MedicineTakeo Sugimoto - Department of Pediatrics, Kansai University Otokoyama HospitalKenji Hisa - Department of Orthopedic Surgery, National Chushin Matsumoto HospitalShinji Kondo - Department of Human Genetics, Nagasaki University School of MedicineAkira Kinoshita - Department of Human Genetics, Nagasaki University School of MedicineYoshimitsu Fukushima - Department of Medical Genetics and Division of Clinical and Molecular Genetics, Shinshu University School of MedicineTakashi Saito - Department of Biochemistry, Osaka University Faculty of MedicineYoshio Makita - Department of Pediatrics, Asahikawa Medical College Department of Public Health, Asahikawa Medical CollegeKunihiro Yoshida - Third Department of Internal Medicine, Shinshu University School of MedicineMakoto Kamegaya - Division of Orthopedic Surgery, Chiba Children's HospitalGen Nishimura - Department of Radiology, Dokkyo University School of MedicineKoh-ichiro Yoshiura - Department of Human Genetics, Nagasaki University School of MedicineShiro Ikegawa - Human Genome Center, Institute of Medical Science, University of TokyoNaoyuki Taniguchi - Department of Biochemistry, Osaka University Faculty of MedicineTadashi Nakagomi - Asahigawa-Ryoikuen Children's Hospital for Physically DisabledMohsen Ghadami - Department of Human Genetics, Nagasaki University School of MedicineKoki Yamada - Department of Human Genetics, Nagasaki University School of MedicineNorio Niikawa - Department of Human Genetics, Nagasaki University School of MedicineHaruki Saito - Department of Orthopedic Surgery, Akita University School of Medicine
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.26(1), pp.19-20
- DOI
- 10.1038/79128
- PMID
- 10973241
- NLM abbreviation
- Nat Genet
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Language
- English
- Date published
- 09/2000
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025676802771
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