Search Result "gene mutations"


Mutations of the Apolipoprotein A5 Gene with Inherited Hypertriglyceridaemia: Review of the Current Literature

Journal: Current Medicinal Chemistry
Volume: 19 Issue: 3 Year: 2012 Page: 6163-6170
Author(s): B. I. Melegh, B. Duga, K. Sumegi, P. Kisfali, A. Maasz, K. Komlosi, K. Hadzsiev, S. Komoly, G. Kosztolanyi, B. Melegh

General Research Article

Identification of Two Novel Mutations in the ATM Gene from Patients with Ataxia-Telangiectasia by Whole Exome Sequencing

Journal: Current Genomics
Volume: 20 Issue: 7 Year: 2019 Page: 531-534
Author(s): Masoud Heidari,Morteza Soleyman-Nejad,Mohammad H. Taskhiri,Javad Shahpouri,Alireza Isazadeh,Roghayyeh Ahangari,Ali R. Mohamadi,Masoumeh Ebrahimi,Hadi Karimi,Manzar Bolhassani,Zahra Karimi,Mansour Heidari

Beyond the Cardiac Myofilament: Hypertrophic Cardiomyopathy- Associated Mutations in Genes that Encode Calcium-Handling Proteins

Journal: Current Molecular Medicine
Volume: 12 Issue: 5 Year: 2012 Page: 507-518
Author(s): A. P. Landstrom,M. J. Ackerman

Screening for Genetic Mutations. A Review

Journal: Combinatorial Chemistry & High Throughput Screening
Volume: 3 Issue: 1 Year: 2000 Page: 1-9
Author(s): Masato Tawata, Kaoru Aida, Toshimasa Onaya

Identification of a Novel Frame-Shift Mutation in PRSS1 Gene in Han Patients with Autoimmune Pancreatitis

Journal: Current Molecular Medicine
Volume: 14 Issue: 3 Year: 2014 Page: 340-348
Author(s): F. Gao,Y. Li,C. Wang,Z. Zhuang,Q.C. Liu,J. Chen,G. Hong,Z. Xu

General Review Article

Role of p53 Gene in Breast Cancer: Focus on Mutation Spectrum and Therapeutic Strategies

Journal: Current Pharmaceutical Design
Volume: 24 Issue: 3 Year: 2018 Page: 3566-3575
Author(s): Raman Preet Kaur,Kanika Vasudeva,Roshan Kumar,Anjana Munshi

Case Report open access plus

A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boywith Hypophosphatemic Rickets

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 23 Issue: 9 Year: 2023 Page: 1235-1239
Author(s): Margherita Lucia De Bernardi,Matteo Della Monica

Prevalence of Pathogenic Mutations in an Italian Clinical Series of Patients with Familial Dementia

Journal: Current Alzheimer Research
Volume: 1 Issue: 3 Year: 2004 Page: 215-218
Author(s): S. Signorini, R. Ghidoni, L. Barbiero, L. Benussi, G. Binetti

Homeobox Genes and Human Genetic Disorders

Journal: Current Molecular Medicine
Volume: 2 Issue: 1 Year: 2002 Page: 13-23
Author(s): Yangu Zhao, Heiner Westphal

Modifiers of Risk in BRCA1/2 Mutation Carriers

Journal: Current Women`s Health Reviews
Volume: 8 Issue: 1 Year: 2012 Page: 23-29
Author(s): Stefano Pepe, Matilde Pensabene, Caterina Condello

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