Denaturing HPLC-Identified Novel FBN1 Mutations, Polymorphisms, and Sequence Variants in Marfan Syndrome and Related Connective Tissue Disorders
Author:
Publisher
Mary Ann Liebert Inc
Subject
Genetics (clinical)
Link
http://www.liebertpub.com/doi/pdf/10.1089/gte.1997.1.237
Reference20 articles.
1. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
2. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders
3. Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15–21 in Marfan syndrome patients
4. Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations
5. Accurate and absolute quantitative measurement of gene expression by single-tube RT-PCR and HPLC.
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