Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family
β Scribed by Larry A Donoso; Albert O Edwards; Arcilee T Frost; Robert Ritter III; N.Nina Ahmad; Tamara Vrabec; Jerry Rogers; David Meyer
- Book ID
- 117018524
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 310 KB
- Volume
- 134
- Category
- Article
- ISSN
- 0002-9394
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The type II collagenopathies include a wide spectrum of phenotypes ranging from mild spondylo epiphyseal dysplasia (SED) to severe achondrogenesis/hypochondrogenesis. Several attempts have been made at providing phenotype-genotype correlations in this group of disorders. In this report we discuss a
Stickler syndrome type I (STL1) is a phenotypically heterogeneous disorder characterized by ocular and extraocular features. It is caused by null-allele mutations in the COL2A1 gene that codes for procollagen II. COL2A1 precursor mRNA undergoes alternative splicing, resulting in two isoforms, a long