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Publications by Ming-Der Perng
Identification of a Novel Nonsense Mutation in the Rod Domain of GFAP That Is Associated With Alexander Disease
European Journal of Human Genetics
Genetics
Alexander Disease Causing Mutations in the C-Terminal Domain of GFAP Are Deleterious Both to Assembly and Network Formation With the Potential to Both Activate Caspase 3 and Decrease Cell Viability
Experimental Cell Research
Cell Biology
Related publications
A Nonsense Mutation (E1978X) in the ATM Gene Is Associated With Breast Cancer
Breast Cancer Research and Treatment
Cancer Research
Oncology
Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family With Episodic Ataxia 2
PLoS ONE
Multidisciplinary
Identification of a Novel Nonsense Mutation in POLH in a Chinese Pedigree With Xeroderma Pigmentosum, Variant Type
International Journal of Medical Sciences
Medicine
A Novel Nonsense ATP2C1 Mutation Causes Hailey-Hailey Disease in a Tunisian Family
Our Dermatology Online
GFAP Expression as an Indicator of Disease Severity in Mouse Models of Alexander Disease
ASN Neuro
Neuroscience
Neurology
Irish Setter Dogs Affected With Rod/Cone Dysplasia Contain a Nonsense Mutation in the Rod cGMP Phosphodiesterase Beta-Subunit Gene.
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
A Novel Mutation in CELSR1 Is Associated With Hereditary Lymphedema
Vascular Cell
Computer Networks
Developmental Neuroscience
Neurology
Cell Biology
Communications
Identification of a Familial Mutation Associated With GABA-Transaminase Deficiency Disease
Neurobiology of Disease
Neurology
Identification of a Nonsense Mutation in the PAX9 Gene in Molar Oligodontia
European Journal of Human Genetics
Genetics
