A Rare Branch-Point Mutation Is Associated with Missplicing of Fibrillin-2 in a Large Family with Congenital Contractural Arachnodactyly

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

Michael Krawczak, Jochen Reiss, D.N. Cooper · Human Genetics · 1992 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +17

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

Brendan Lee, Maurice Godfrey, Emilia Vitale et al. · Nature · 1991 · 675 citations

Life Sciences, Genetics, Molecular Genetics +12

Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices

Hao Zhang, Weiguo Hu, EC Davis et al. · The Journal of Cell Biology · 1994 · 386 citations · Full text

Life Sciences, Developmental Biology, Molecular Biology +9

Fibrillin–2 (FBN2) mutations result in the Marfan–like disorder, congenital contractural arachnodactyly

Elizabeth A. Putnam, Hui Zhang, Francesco Ramirez et al. · Nature Genetics · 1995 · 295 citations

Life Sciences, Genetics, Molecular Genetics +10

Genetic Linkage of the Marfan Syndrome, Ectopia Lentis, and Congenital Contractural Arachnodactyly to the Fibrillin Genes on Chromosomes 15 and 5

Petros Tsipouras, R. Del Mastro, M. Sarfarazi et al. · New England Journal of Medicine · 1992 · 273 citations

Life Sciences, Genetics, Molecular Genetics +11