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A Putative Alternatively Spliced Variant of the P2X1 Purinoreceptor in Human Bladder

✍ Scribed by L. A. Hardy; I. J. Harvey; P. Chambers; J. I. Gillespie


Book ID
111111960
Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
165 KB
Volume
85
Category
Article
ISSN
0958-0670

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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