Publications:

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.

Human Molecular Genetics

Bauer, Peter P; Balding, David J DJ; Klünemann, Hans H HH; Linden, David E J DE; Ory, Daniel S DS; Pineda, Mercè M; Priller, Josef J; Sedel, Frederic F; Muller, Audrey A; Chadha-Boreham, Harbajan H; Welford, Richard W D RW; Strasser, Daniel S DS; Patterson, Marc C MC

Publication Date: 2013-11-01

Variant appearance in text: NPC1: 3002T>C; Met1001Thr

PubMed Link: 23773996

Variant Present in the following documents:

• Main text
• ddt284.pdf

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