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Segregation analysis of the structural genes of the major fibrillar collagens provides further evidence of molecular heterogeneity in type II Ehlers-Danlos syndrome.

Abstract:

Type II Ehlers-Danlos syndrome (EDS) is one of a group of disorders characterized by striking abnormalities of the soft connective tissues. The major fibrillar collagens (types I and III) found in these tissues have important stress-bearing functions and abnormal collagen could therefore account for the clinical features of this condition. We have used a number of restriction site dimorphisms, tightly linked to the structural genes of type I collagen (COL1A1 COL1A2) and type III collagen (COL...

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Publication status:
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Institution:
University of Oxford
Division:
MSD
Department:
NDORMS
Role:
Author
Journal:
British journal of rheumatology More from this journal
Volume:
30
Issue:
3
Pages:
173-177
Publication date:
1991-06-01
ISSN:
0263-7103
Language:
English
Keywords:
Pubs id:
pubs:108657
UUID:
uuid:f643ee2c-3d55-4875-9183-3c96006397aa
Local pid:
pubs:108657
Source identifiers:
108657
Deposit date:
2013-11-17

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