Mouse silver. mutation is caused by a single base insertion in the putative cytoplasmic domain of Pmel 17

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Mouse silver mutation is caused by a single base insertion in the putative cytoplasmic domain of pmel 17. Nucleic acids res (1995).

Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1

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The Lethal(1)tw-6(cs) Mutation of Drosophila Melanogaster Is a Dominant Antimorphic Allele of Nod and Is Associated with a Single Base Change in the Putative Atp-Binding Domain

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A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12.

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A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.

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Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

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Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.

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Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

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