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Links from Nucleotide

Items: 2

1.

Hermansky-Pudlak Syndrome.

Gahl WA, Huizing M.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2000 Jul 24 [updated 2014 Dec 11].

2.

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).

Morgan NV, Pasha S, Johnson CA, Ainsworth JR, Eady RA, Dawood B, McKeown C, Trembath RC, Wilde J, Watson SP, Maher ER.

Am J Hum Genet. 2006 Jan;78(1):160-6. Epub 2005 Nov 28.

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