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Publications by Chi-Hsuan Chang

Identification of a Novel Nonsense Mutation in the Rod Domain of GFAP That Is Associated With Alexander Disease

European Journal of Human Genetics

English

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A Nonsense Mutation (E1978X) in the ATM Gene Is Associated With Breast Cancer

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Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family With Episodic Ataxia 2

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Identification of a Novel Nonsense Mutation in POLH in a Chinese Pedigree With Xeroderma Pigmentosum, Variant Type

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A Novel Nonsense ATP2C1 Mutation Causes Hailey-Hailey Disease in a Tunisian Family

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GFAP Expression as an Indicator of Disease Severity in Mouse Models of Alexander Disease

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Irish Setter Dogs Affected With Rod/Cone Dysplasia Contain a Nonsense Mutation in the Rod cGMP Phosphodiesterase Beta-Subunit Gene.

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A Novel Mutation in CELSR1 Is Associated With Hereditary Lymphedema

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Identification of a Familial Mutation Associated With GABA-Transaminase Deficiency Disease

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Identification of a Nonsense Mutation in the PAX9 Gene in Molar Oligodontia

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