| Ascertainment and severity of Marfan syndrome in a Scottish population. | |
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MedLine Citation:
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PMID: 8151638 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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J R Gray; A B Bridges; M J Faed; T Pringle; P Baines; J Dean; M Boxer |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of medical genetics Volume: 31 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1994 Jan |
Date Detail:
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Created Date: 1994-05-10 Completed Date: 1994-05-10 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 51-4 Citation Subset: IM |
Affiliation:
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Department of Pathology, Ninewells Hospital and Medical School, Dundee, UK. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Bone and Bones / pathology Cardiovascular System / pathology Female Humans Incidence Male Marfan Syndrome / diagnosis*, etiology, genetics, physiopathology Mutation Prevalence Scotland |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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