Publications:

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

American Journal Of Human Genetics

Millat, G G; Marçais, C C; Tomasetto, C C; Chikh, K K; Fensom, A H AH; Harzer, K K; Wenger, D A DA; Ohno, K K; Vanier, M T MT

Publication Date: 2001-06

Variant appearance in text: NPC1: S940X

PubMed Link: 11333381

Variant Present in the following documents:

• Main text

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