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

Hanlin Gao(Massachusetts General Hospital), Rose-Mary N. Boustany(Duke Medical Center), Janice A. Espinola(Massachusetts General Hospital), Susan L. Cotman(Massachusetts General Hospital), Lakshmi Srinidhi(Massachusetts General Hospital), Kristen Auger Antonellis(Massachusetts General Hospital), Tammy Gillis(Massachusetts General Hospital), Xuebin Qin(Tufts University), Shumei Liu(Tufts University), Leah Rae Donahue(Jackson Laboratory), Roderick T. Bronson(Jackson Laboratory), Jerry R. Faust(Tufts University), Derek Stout(Massachusetts General Hospital), Jonathan L. Haines(Vanderbilt University Medical Center), Terry J. Lerner(Massachusetts General Hospital), Marcy E. MacDonald(Massachusetts General Hospital)
The American Journal of Human Genetics
February 1, 2002
Cited by 223Open Access
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