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Mutation databases

A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome

Anna Tarradas, Elisabet Selga, Pedro Beltran-Alvarez, Alexandra Pérez-Serra, Helena Riuró, Ferran Picó, Anna Iglesias, Oscar Campuzano, Víctor Castro-Urda, Ignacio Fernández-Lozano, Guillermo J. Pérez, Fabiana S. Scornik, Ramon Brugada

published 07 Jan 2013

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X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

Cyntia Anabel Amorosi, Helena Myskóva, Mariela Roxana Monti, Carlos Enrique Argaraña, Masashi Morita, Stephan Kemp, Raquel Dodelson de Kremer, Lenka Dvoráková, Ana María Oller de Ramírez

published 31 Dec 2012

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Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

Kerstin Knies, Beatrice Schuster, Najim Ameziane, Martin Rooimans, Thomas Bettecken, Johan de Winter, Detlev Schindler

published 20 Dec 2012

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Novel PAX9 and COL1A2 Missense Mutations Causing Tooth Agenesis and OI/DGI without Skeletal Abnormalities

Shih-Kai Wang, Hui-Chen Chan, Igor Makovey, James P. Simmer, Jan C-C. Hu

published 05 Dec 2012

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Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Oscar Diaz-Horta, Duygu Duman, Joseph Foster II, Aslı Sırmacı, Michael Gonzalez, Nejat Mahdieh, Nikou Fotouhi, Mortaza Bonyadi, Filiz Başak Cengiz, Ibis Menendez, Rick H. Ulloa, Yvonne J. K. Edwards, Stephan Züchner, Susan Blanton, Mustafa Tekin

published 30 Nov 2012

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Two Novel Mutations on Exon 8 and Intron 65 of COL7A1 Gene in Two Chinese Brothers Result in Recessive Dystrophic Epidermolysis Bullosa

Ying Lin, Xue-Jun Chen, Wei Liu, Bo Gong, Jun Xie, Jun-Hao Xiong, Jing Cheng, Xi-Ling Duan, Zhao-Chun Lin, Lu-Lin Huang, Hui-Ying Wan, Xiao-Qi Liu, Lin-Hong Song, Zheng-Lin Yang

published 30 Nov 2012

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Establishment and Characterization of a Highly Tumourigenic and Cancer Stem Cell Enriched Pancreatic Cancer Cell Line as a Well Defined Model System

Johannes Fredebohm, Michael Boettcher, Christian Eisen, Matthias M. Gaida, Anette Heller, Shereen Keleg, Jörg Tost, Karin M. Greulich-Bode, Agnes Hotz-Wagenblatt, Mark Lathrop, Nathalia A. Giese, Jörg D. Hoheisel

published 12 Nov 2012

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Screening for and Verification of Novel Mutations Associated with Drug Resistance in the HIV Type 1subtype B^′ in China

Hanping Li, Qingmao Geng, Wei Guo, Daomin Zhuang, Lin Li, Yongjian Liu, Zuoyi Bao, Siyang Liu, Jingyun Li

published 08 Nov 2012

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Molecular Dissection of the Basal Clades in the Human Y Chromosome Phylogenetic Tree

Rosaria Scozzari, Andrea Massaia, Eugenia D’Atanasio, Natalie M. Myres, Ugo A. Perego, Beniamino Trombetta, Fulvio Cruciani

published 07 Nov 2012

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Assessing Predictors of Changes in Protein Stability upon Mutation Using Self-Consistency

Grant Thiltgen, Richard A. Goldstein

published 29 Oct 2012

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Mutation Analysis of BRCA1, BRCA2, PALB2 and BRD7 in a Hospital-Based Series of German Patients with Triple-Negative Breast Cancer

Franziska Pern, Natalia Bogdanova, Peter Schürmann, Min Lin, Aysun Ay, Florian Länger, Peter Hillemanns, Hans Christiansen, Tjoung-Won Park-Simon, Thilo Dörk

published 24 Oct 2012

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Identification of Functional SNPs in BARD1 Gene and In Silico Analysis of Damaging SNPs: Based on Data Procured from dbSNP Database

Ali A. Alshatwi, Tarique N. Hasan, Naveed A. Syed, Gowhat Shafi, B. Leena Grace

published 09 Oct 2012

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Predicting the Functional Effect of Amino Acid Substitutions and Indels

Yongwook Choi, Gregory E. Sims, Sean Murphy, Jason R. Miller, Agnes P. Chan

published 08 Oct 2012

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