Document Detail


Ascertainment and severity of Marfan syndrome in a Scottish population.
MedLine Citation:
PMID:  8151638     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
This study in north east Scotland has shown that Marfan syndrome has a minimal birth incidence of 1:9802 live births, a minimal prevalence of 1:14217, and that 8/30 (26.7%) of cases in our series are new mutations. The calculated mutation rate is 15 +/- 6.7 x 10(-6) and there is evidence of reduced reproductive fitness.
Authors:
J R Gray; A B Bridges; M J Faed; T Pringle; P Baines; J Dean; M Boxer
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  31     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1994 Jan 
Date Detail:
Created Date:  1994-05-10     Completed Date:  1994-05-10     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  51-4     Citation Subset:  IM    
Affiliation:
Department of Pathology, Ninewells Hospital and Medical School, Dundee, UK.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Bone and Bones / pathology
Cardiovascular System / pathology
Female
Humans
Incidence
Male
Marfan Syndrome / diagnosis*,  etiology,  genetics,  physiopathology
Mutation
Prevalence
Scotland
Comments/Corrections

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