Achondrogenesis type IB (Fraccaro): Study of collagen in the tissue and in chondrocytes cultured in agarose
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference26 articles.
1. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
2. Dedifferentiated chondrocytes reexpress the differentiated collagen phenotype when cultured in agarose gels
3. An amino acid substitution (Gly853–>Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.
4. A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta
5. Achondrogenesis type I: Delineation of further heterogeneity and identification of two distinct subgroups
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2. New subtype of familial achondrogenesis type IA (Houston-Harris);Cirugía y Cirujanos (English Edition);2019-04-05
3. A;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007
4. Achondrogenesis type 1B.;Journal of Medical Genetics;1996-11-01
5. Undersulfation of Proteoglycans Synthesized by Chondrocytes from a Patient with Achondrogenesis Type 1B Homozygous for an L483P Substitution in the Diastrophic Dysplasia Sulfate Transporter;Journal of Biological Chemistry;1996-08
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