𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Comparativein silicoanalyses and experimental validation of novel splice site and missense mutations in the genesMLH1andMSH2

✍ Scribed by Beate Betz; Stephan Theiss; Murat Aktas; Carolin Konermann; Timm O. Goecke; Gabriela Möslein; Heiner Schaal; Brigitte Royer-Pokora

Book ID
106124112
Publisher
Springer-Verlag
Year
2009
Tongue
English
Weight
618 KB
Volume
136
Category
Article
ISSN
1432-1335

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Association of missense and 5′-splice-si
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
✍ Hutton, Mike; Heutink, Peter; Lendon, Corinne L.; Rizzu, Patrizia; Baker, Matt; 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 305 KB

Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), historically termed Pick's disease. Most FTDP-17 cases show neuronal and/or glial inclusions that stain positively with antibodies r

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

Differentiating pathogenic mutations fro
Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2
✍ Kathleen Claes; Bruce Poppe; Eva Machackova; Ilse Coene; Lenka Foretova; Anne De 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 102 KB 👁 1 views

## Abstract About 4% of all __BRCA1__ and __BRCA2__ alterations reported to the Breast Information Core database are splice site variants. Only a limited number of them have been studied at the RNA level. By __BRCA1__ and __BRCA2__ mutation analysis of breast/ovarian cancer families, we identified

Identification of seven novel missense m
Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency
✍ Consuelo Climent; Vicente Rubio 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 1 views

Ornithine transcarbamylase (OTC) deficiency, a X-linked disorder, is the most frequent inborn error of the urea cycle. Point mutations and small deletions/insertions in the OTC gene are responsible for the majority of the cases and have a "private"character with little recurrence. We report on eleve