Application of dHPLC for Mutation Detection of the Fibrillin-1 Gene for the Diagnosis of Marfan Syndrome in a National Health Service Laboratory
Author:
Affiliation:
1. Wessex Regional Genetics Laboratory, Salisbury Hospital NHS Trust, Salisbury, Wiltshire, SP2 8BJ, UK.
Publisher
Mary Ann Liebert Inc
Subject
Genetics(clinical)
Link
http://www.liebertpub.com/doi/pdf/10.1089/gte.2006.0514
Reference13 articles.
1. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies
2. Revised Genomic Organization ofFBN1and Significance for Regulated Gene Expression
3. Detection of thirty novelFBN1mutations in patients with Marfan syndrome or a related fibrillinopathy
4. Revised diagnostic criteria for the Marfan syndrome
5. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders
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