✦ LIBER ✦

A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping

✍ Scribed by F.Yesim K. Demirci; Amy L. Radak; Brian W. Rigatti; Tammy S. Mah; Michael B. Gorin

Book ID: 116199688
Publisher: Elsevier Science
Year: 2004
Tongue: English
Weight: 142 KB
Volume: 138
Category: Article
ISSN: 0002-9394
DOI: 10.1016/j.ajo.2004.04.019

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Systematic screening for RNA with skippe

Systematic screening for RNA with skipped exons - splicing mutations of the ferrochelatase gene

✍ Xiuhua Wang; Maureen Poh-Fitzpatrick; Timothy Chen; Kishor Malavade; Damaris Car 📂 Article 📅 1995 🏛 Elsevier Science 🌐 English ⚖ 433 KB

A missense mutation in the APC tumor sup

A missense mutation in the APC tumor suppressor gene disrupts an ASF/SF2 splicing enhancer motif and causes pathogenic skipping of exon 14

✍ Vânia Gonçalves; Patrícia Theisen; Ofélia Antunes; Ana Medeira; José Silva Ramos 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 352 KB

Disruption of exonic splicing enhancer e

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1

✍ Andrea Zatkova; Ludwine Messiaen; Ina Vandenbroucke; Rotraud Wieser; Christa Fon 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 277 KB

Nonsense, missense, and even silent mutation-associated exon skipping is recognized in an increasing number of genes as a novel form of splicing mutation. The analysis of individual mutations of this kind can shed light on basic pre-mRNA splicing mechanisms. Using cDNA-based mutation detection analy

Exon 6 skipping in the fanconi anemia C

Exon 6 skipping in the fanconi anemia C gene associated with a nonsense/missense mutation (775C→T) in exon 5: The first example of a nonsense mutation in one exon causing skipping of another downstream

✍ Jerome R. Lo Ten Foe; Frank A.E. Kruyt; Marjolein B.M. Zweekhorst; Gerard Pals; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 355 KB 👁 1 views

## How Fancbni anemia (FA) is a rare autosomal recessive disease characterized by diverse clinical symptoms, chromosomal instability, and hypersensitivity

A point mutation in splice donor site of

A point mutation in splice donor site of intron 12 of LDLR receptor gene causing exon skipping, alternative splicing and read through: a high-frequency mutation in Japan

✍ T. Maruvama; Y. Miyake; Y. Toyota; M. Harada-Shiba; T. Yamamura; A. Yamamoto 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 308 KB

Splice donor site mutation in the lysoso

Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient

✍ Roland Penzel; Johannes Uhl; Jürgen Kopitz; Michael Beck; Herwart F. Otto; Micha 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 462 KB