NHLRC1 mutants [cytosol]

Stable Identifier
R-HSA-3797212
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
cytosol
Synonyms
malin mutants
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Literature References
PubMed ID Title Journal Year
12958597 Mutations in NHLRC1 cause progressive myoclonus epilepsy

Scherer, SW, Jovic, NJ, Chan, EM, Avanzini, G, Ackerley, CA, Delgado-Escueta, AV, Zhao, X, Young, EJ, Andermann, E, Bohlega, S, Rouleau, GA, Elia, M, Christopoulos, CC, Ianzano, L, Munteanu, I, Minassian, BA

Nat. Genet. 2003
Participants
members
Disease
Name Identifier Synonyms
glycogen storage disease DOID:2747 glycogenosis
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