A Nonsense Mutation Causes Hereditary Goitre in the Afrikander Cattle and Unmasks Alternative Splicing of Thyroglobulin Transcripts

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

✍ Audrey McAlinden; Marja Majava; Paul N. Bishop; Rahat Perveen; Graeme CM. Black; 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 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