Mutations in a Novel CLN6-Encoded Transmembrane Protein Cause Variant Neuronal Ceroid Lipofuscinosis in Man and Mouse

The CLN6 gene that causes variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a recessively inherited neurodegenerative disease that features blindness, seizures, and cognitive decline, maps to 15q21-23. We have used multiallele markers spanning this ∼4-Mb candidate interval to reveal a...

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Main Authors: Gao, Hanlin, Boustany, Rose-Mary N., Espinola, Janice A., Cotman, Susan L., Srinidhi, Lakshmi, Antonellis, Kristen Auger, Gillis, Tammy, Qin, Xuebin, Liu, Shumei, Donahue, Leah R., Bronson, Roderick T., Faust, Jerry R., Stout, Derek, Haines, Jonathan L., Lerner, Terry J., MacDonald, Marcy E.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2002
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC384912/
https://ncbi.nlm.nih.gov/pubmed/11791207
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