Mutation Spectrum inRAB3GAP1,RAB3GAP2, andRAB18and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
出版年份 2013 全文链接
标题
Mutation Spectrum inRAB3GAP1,RAB3GAP2, andRAB18and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
作者
关键词
-
出版物
HUMAN MUTATION
Volume 34, Issue 5, Pages 686-696
出版商
Wiley
发表日期
2013-02-20
DOI
10.1002/humu.22296
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- A NovelRAB33BMutation in Smith-McCort Dysplasia
- (2012) Nina Dupuis et al. HUMAN MUTATION
- Mutation inRAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve–Melchior–Clausen locus
- (2012) Muneera J Alshammari et al. JOURNAL OF MEDICAL GENETICS
- Warburg Micro syndrome
- (2012) Fatma Dursun et al. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
- Sense from nonsense: therapies for premature stop codon diseases
- (2012) Laure Bidou et al. TRENDS IN MOLECULAR MEDICINE
- Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome
- (2011) Danai Bem et al. AMERICAN JOURNAL OF HUMAN GENETICS
- LOVD v.2.0: the next generation in gene variant databases
- (2011) Ivo F. A. C. Fokkema et al. HUMAN MUTATION
- Rab3-GAP Controls the Progression of Synaptic Homeostasis at a Late Stage of Vesicle Release
- (2011) Martin Müller et al. NEURON
- Role of Rab GTPases in Membrane Traffic and Cell Physiology
- (2011) Alex H. Hutagalung et al. PHYSIOLOGICAL REVIEWS
- Rab18 Dynamics in Adipocytes in Relation to Lipogenesis, Lipolysis and Obesity
- (2011) Marina R. Pulido et al. PLoS One
- An Integrated Approach to Uncover Drivers of Cancer
- (2010) Uri David Akavia et al. CELL
- New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish
- (2010) Deborah J Morris-Rosendahl et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome
- (2010) Guntram Borck et al. HUMAN GENETICS
- Mutant Huntingtin Impairs Post-Golgi Trafficking to Lysosomes by Delocalizing Optineurin/Rab8 Complex from the Golgi Apparatus
- (2009) Daniel del Toro et al. MOLECULAR BIOLOGY OF THE CELL
- Rab18 and Rab43 have key roles in ER-Golgi trafficking
- (2008) S. Y. Dejgaard et al. JOURNAL OF CELL SCIENCE
- Rab18 Is Reduced in Pituitary Tumors Causing Acromegaly and Its Overexpression Reverts Growth Hormone Hypersecretion
- (2008) Rafael Vazquez-Martinez et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation
- (2008) A. Battaglia et al. PEDIATRICS
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started