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Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders.
Genet Test. 1997-1998;1(4):237-42. doi: 10.1089/gte.1997.1.237.
Genet Test. 1997.
PMID: 10464652
Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.
Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U.
Schrijver I, et al.
Am J Hum Genet. 2002 Aug;71(2):223-37. doi: 10.1086/341581. Epub 2002 Jun 14.
Am J Hum Genet. 2002.
PMID: 12068374
Free PMC article.
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