๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Alternatively Spliced CIAS1 mRNA in a Variant Case of Muckle Wells Syndrome

โœ Scribed by VASUDEV, M; REDDY, M; KUMAR, A; NOEL, R; NOCTON, J; VERBSKY, J; GROSSMAN, W

Book ID
119280025
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
48 KB
Volume
121
Category
Article
ISSN
1097-6825

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Missense and nonsense mutations in the a
Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome
โœ Audrey McAlinden; Marja Majava; Paul N. Bishop; Rahat Perveen; Graeme CM. Black; ๐Ÿ“‚ Article ๐Ÿ“… 2008 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 316 KB

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