Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. Issue 1 (16th January 2004)
- Record Type:
- Journal Article
- Title:
- Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. Issue 1 (16th January 2004)
- Main Title:
- Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type
- Authors:
- Nishimura, G
Nakashima, E
Mabuchi, A
Shimamoto, K
Shimamoto, T
Shimao, Y
Nagai, T
Yamaguchi, T
Kosaki, R
Ohashi, H
Makita, Y
Ikegawa, S - Abstract:
- Is Part Of:
- Journal of medical genetics. Volume 41:Issue 1(2004)
- Journal:
- Journal of medical genetics
- Issue:
- Volume 41:Issue 1(2004)
- Issue Display:
- Volume 41, Issue 1 (2004)
- Year:
- 2004
- Volume:
- 41
- Issue:
- 1
- Issue Sort Value:
- 2004-0041-0001-0000
- Page Start:
- 75
- Page End:
- 79
- Publication Date:
- 2004-01-16
- Subjects:
- ACGII/HCG, achondrogenesis II/hypochondrogenesis -- COL2A1, type II collagen gene -- FGFR3, fibroblast growth factor receptor 3 gene -- PLSD, platyspondylic lethal skeletal dysplasia -- PLSD-L, platyspondylic lethal skeletal dysplasia, Luton type -- PLSD-SD, platyspondylic lethal skeletal dysplasia, San Diego type -- PLSD-T, platyspondylic lethal skeletal dysplasia, Torrance type -- TD, thanatophoric dysplasia -- TD1, TD2, two types of thanatophoric dysplasia -- SEDC, spondylo-epiphyseal dysplasia congenita
COL2A1 -- platyspondylic lethal skeletal dysplasia -- skeletal dysplasia -- Torrance type -- type II collagen
Medical genetics -- Periodicals
616.042 - Journal URLs:
- http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗ - DOI:
- 10.1136/jmg.2003.013722 ↗
- Languages:
- English
- ISSNs:
- 1468-6244
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 17947.xml