Two novel fibrillin-2 mutations in congenital contractural arachnodactyly
- 1 May 2000
- journal article
- Published by Wiley in American Journal of Medical Genetics
Abstract
No abstract availableKeywords
This publication has 20 references indexed in Scilit:
- Clustering ofFBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human developmentAmerican Journal of Medical Genetics, 1998
- Three novel fibrillin mutations in exons 25 and 27: Classic versus neonatal Marfan syndromeHuman Mutation, 1997
- An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts.Genome Research, 1996
- Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils.The Journal of cell biology, 1995
- A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.Journal of Clinical Investigation, 1995
- Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndromeHuman Molecular Genetics, 1995
- Fibrillin-1 and Fibrillin-2 Show Temporal and Tissue-Specific Regulation of Expression in Developing Elastic TissuesConnective Tissue Research, 1995
- Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndromeHuman Molecular Genetics, 1993
- Congenital Contractural ArachnodactylyActa Orthopaedica, 1976
- Hereditary dysplasia of bone with kyphoscoliosis,contractures, and abnormally shaped earsThe Journal of Pediatrics, 1968