Characterization of Disease-Associated Mutations in Human Transmembrane Proteins
Published 2016 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins
Authors
Keywords
-
Journal
PLoS One
Volume 11, Issue 3, Pages e0151760
Publisher
Public Library of Science (PLoS)
Online
2016-03-18
DOI
10.1371/journal.pone.0151760
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing
- (2015) Hao Liu et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- No more hidden solutions in bioinformatics
- (2015) Mauno Vihinen NATURE
- CCTOP: a Consensus Constrained TOPology prediction web server
- (2015) László Dobson et al. NUCLEIC ACIDS RESEARCH
- FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
- (2014) Chandree L. Beaulieu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Rare-disease genetics in the era of next-generation sequencing: discovery to translation
- (2013) Kym M. Boycott et al. NATURE REVIEWS GENETICS
- Activities at the Universal Protein Resource (UniProt)
- (2013) NUCLEIC ACIDS RESEARCH
- The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions
- (2012) Michael J. Bamshad et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Personal receptor repertoires: olfaction as a model
- (2012) Tsviya Olender et al. BMC GENOMICS
- PDBTM: Protein Data Bank of transmembrane proteins after 8 years
- (2012) Dániel Kozma et al. NUCLEIC ACIDS RESEARCH
- Lipidic cubic phase technologies for membrane protein structural studies
- (2011) Vadim Cherezov CURRENT OPINION IN STRUCTURAL BIOLOGY
- Femtosecond nanocrystallography using X-ray lasers for membrane protein structure determination
- (2011) Petra Fromme et al. CURRENT OPINION IN STRUCTURAL BIOLOGY
- Integrated genomic analyses of ovarian carcinoma
- (2011) D. Bell et al. NATURE
- BEDTools: a flexible suite of utilities for comparing genomic features
- (2010) Aaron R. Quinlan et al. BIOINFORMATICS
- Loss-of-function variants in the genomes of healthy humans
- (2010) D. G. MacArthur et al. HUMAN MOLECULAR GENETICS
- A Look at Arginine in Membranes
- (2010) Kalina Hristova et al. JOURNAL OF MEMBRANE BIOLOGY
- Clustering of disease-causing mutations on the domain–domain interfaces of ABCC6
- (2009) Krisztina Fülöp et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis
- (2009) A. Iolascon et al. HAEMATOLOGICA
- Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations
- (2009) Detlef Bockenhauer et al. NEW ENGLAND JOURNAL OF MEDICINE
- Human olfaction: from genomic variation to phenotypic diversity
- (2009) Yehudit Hasin-Brumshtein et al. TRENDS IN GENETICS
- Prediction of membrane-protein topology from first principles
- (2008) A. Bernsel et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Rationalizing α-helical membrane protein crystallization
- (2008) Simon Newstead et al. PROTEIN SCIENCE
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started