Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I
- 1 September 2002
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 71 (3) , 451-465
- https://doi.org/10.1086/342099
Abstract
No abstract availableKeywords
This publication has 50 references indexed in Scilit:
- Biosynthetic Processing of the Pro-α1(V)2Pro-α2(V) Collagen Heterotrimer by Bone Morphogenetic Protein-1 and Furin-like Proprotein ConvertasesPublished by Elsevier ,2002
- A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition11Edited by M. YanivJournal of Molecular Biology, 2001
- Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional proalpha2(I) chain and an EDS/OI clinical phenotypeJournal of Medical Genetics, 2001
- An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.Journal of Medical Genetics, 1996
- A translocation interrupts the COL5A1 gene in a patient with Ehlers–Danlos syndrome and hypomelanosis of ItoNature Genetics, 1996
- Complete Structural Organization of the Human α1(V) Collagen Gene (COL5A1): Divergence from the Conserved Organization of Other Characterized Fibrillar Collagen GenesGenomics, 1995
- Differential Expression of an Acidic Domain in the Amino-terminal Propeptide of Mouse Pro- 2(XI) Collagen by Complex Alternative SplicingPublished by Elsevier ,1995
- Molecular cloning of PARP (proline/arginine‐rich protein) from human cartilage and subsequent demonstration that PARP is a fragment of the NH2‐terminal domain of the collagen α2(XI) chainFEBS Letters, 1993
- The modular architecture of vertebrate collagensFEBS Letters, 1992
- Existence of malfunctioning proα2(I) collagen genes in a patient with a proα2(I)‐chain‐defective variant of Ehlers‐Danlos syndromeEuropean Journal of Biochemistry, 1988