Marshall Syndrome Associated with a Splicing Defect at the COL11A1 Locus
- 1 April 1998
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 62 (4), 816-823
- https://doi.org/10.1086/301789
Abstract
No abstract availableKeywords
This publication has 43 references indexed in Scilit:
- Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the α2(XI) chain of type XI collagenThe Journal of Pediatrics, 1998
- Localization of the Homolog of a Mouse Craniofacial Mutant to Human Chromosome 18q11 and Evaluation of Linkage to Human CLP and CPOGenomics, 1996
- Complete Structural Organization of the Human α1(V) Collagen Gene (COL5A1): Divergence from the Conserved Organization of Other Characterized Fibrillar Collagen GenesGenomics, 1995
- Developmental pattern of expression of the mouse α1(XI) collagen gene (Col11a1)Developmental Dynamics, 1995
- Alternative Exon Splicing within the Amino-terminal Nontriple-helical Domain of the Rat Pro-α1(XI) Collagen Chain Generates Multiple Forms of the mRNA Transcript Which Exhibit Tissue-dependent VariationPublished by Elsevier BV ,1995
- Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL 2A1Eye, 1994
- The type II collagenopathies: A spectrum of chondrodysplasiasEuropean Journal of Pediatrics, 1994
- Identification of the cartilage α 1(XI) chain in type V collagen from bovine boneFEBS Letters, 1989
- Mapping of a human fibrillar collagen gene, pro α1(XI) (COL11A1), to the p21 region of chromosome 1Genomics, 1988
- The demise of the Marshall syndromeThe Journal of Pediatrics, 1974