Search Result "founder mutation"

Identification and Characterization of BRCA1 and BRCA2 Founder Mutations

Journal: Current Women`s Health Reviews
Volume: 8 Issue: 1 Year: 2012 Page: 17-22
Author(s): T. Sidoni, V. Cocciolone, G. Giannini, A. Russo, F. Baudi, K. Cannita, C. Ficorella, S. Iacobelli, E. Ricevuto

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

Human Y Chromosome Mutation Rate: Problems and Perspectives

Ebook: Anthropology: Current and Future Developments
Volume: 2 Year: 2016
Author(s): Paolo Francalacci,Daria Sanna,Antonella Useli
Doi: 10.2174/9781681083858116020007

Red Cell Glycolytic Enzyme Disorders Caused by Mutations: An Update

Journal: Cardiovascular & Hematological Disorders-Drug Targets
Volume: 9 Issue: 2 Year: 2009 Page: 95-106
Author(s): Fernando Climent, Feliu Roset, Ada Repiso, Pablo Perez de la Ossa

Impact of Splicing Factor Mutations on Pre-mRNA Splicing in the Myelodysplastic Syndromes

Journal: Current Pharmaceutical Design
Volume: 22 Issue: 1 Year: 2016 Page: 2333-2344
Author(s): Bon Ham Yip, Hamid Dolatshad, Swagata Roy, Andrea Pellagatti, Jacqueline Boultwood

Phenotypic Variants of the Deafness-Associated Mitochondrial DNA A7445G Mutation

Journal: Current Medicinal Chemistry
Volume: 15 Issue: 1 Year: 2008 Page: 1257-1262
Author(s): Anita Maasz, Katalin Komlosi, Kinga Hadzsiev, Zsolt Szabo, Patrick J. Willems, Imre Gerlinger, Gyorgy Kosztolanyi, Karoly Mehes, Bela Melegh

Mutated Genes in Juvenile and Variant Late Infantile Neuronal Ceroid Lipofuscinoses Encode Lysosomal Proteins

Journal: Current Molecular Medicine
Volume: 2 Issue: 5 Year: 2002 Page: 439-444
Author(s): Jouni Vesa, Leena Peltonen

BRCA Unclassified Variants: How Can They be Classified?

Journal: Current Women`s Health Reviews
Volume: 8 Issue: 1 Year: 2012 Page: 30-37
Author(s): Stefania Tommasi, Simona De Summa, Brunella Pilato, Angelo Paradiso

Research Article

Genetic Features of MAPT, GRN, C9orf72 and CHCHD10 Gene Mutations in Chinese Patients with Frontotemporal Dementia

Journal: Current Alzheimer Research
Volume: 14 Issue: 10 Year: 2017 Page: 1102-1108
Author(s): Xiang-Qian Che,Qian-Hua Zhao,Yue Huang,Xia Li,Ru-Jing Ren,Sheng-Di Chen,Gang Wang,Qi-Hao Guo

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