✦ LIBER ✦

Opinion: Genomic variants in exons and introns: identifying the splicing spoilers

✍ Scribed by Pagani, Franco; Baralle, Francisco E.

Book ID: 109951866
Publisher: Nature Publishing Group
Year: 2004
Tongue: English
Weight: 197 KB
Volume: 5
Category: Article
ISSN: 1471-0056
DOI: 10.1038/nrg1327

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Splicing and multifactorial analysis of

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

✍ Phillip J. Whiley; Lucia Guidugli; Logan C. Walker; Sue Healey; Bryony A. Thomps 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 293 KB 👁 2 views

Clinical management of breast cancer families is complicated by identification of BRCA1 and BRCA2 sequence alterations of unknown significance. Molecular assays evaluating the effect of intronic variants on native splicing can help determine their clinical relevance. Twentysix intronic BRCA1/2 varia

Variations of the length of exons and in

Variations of the length of exons and introns in human genome genes

✍ A. T. Ivashchenko; V. A. Khailenko; Sh. A. Atambaeva 📂 Article 📅 2009 🏛 SP MAIK Nauka/Interperiodica 🌐 English ⚖ 218 KB

Splice variant lacking the transactivati

Splice variant lacking the transactivation domain of the BRCA2 gene and mutations in the splice acceptor site of intron 2

✍ Manuela Santarosa; Alessandra Viel; Mauro Boiocchi 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 150 KB 👁 2 views

Diversity of group II introns in the gen

Diversity of group II introns in the genome ofSinorhizobium melilotistrain 1021: splicing and mobility of RmInt1

✍ N. Toro; F. Martínez-Abarca; M. Fernández-López; E. Muñoz-Adelantado 📂 Article 📅 2003 🏛 Springer 🌐 English ⚖ 396 KB

Alternative splicing in the human, mouse

Alternative splicing in the human, mouse and rat genomes is associated with an increased frequency of exon creation and/or loss

✍ Modrek, Barmak; Lee, Christopher J 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 135 KB

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