Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect
- 3 March 1997
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
Abstract
No abstract availableKeywords
This publication has 9 references indexed in Scilit:
- The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.Journal of Medical Genetics, 1996
- Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: Parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasiaPediatric Radiology, 1994
- A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasiaHuman Molecular Genetics, 1994
- Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasiaHuman Molecular Genetics, 1994
- Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defectNature Genetics, 1993
- Completion of the intron-exon structure of the gene for human type II procollagen (COL2A1): Variations in the nucleotide sequences of the alleles from three chromosomesGenomics, 1990
- Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reactionGenomics, 1989
- Keratan sulphate excretion in a patient with Kniest dysplasiaJournal of Inherited Metabolic Disease, 1979
- Zur Abgrenzung der Dysostosis enchondralis von der ChondrodystrophieEuropean Journal of Pediatrics, 1952