Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.

The histiocytoses are a heterogeneous group of disorders characterised by an excessive number of histiocytes. In most cases the pathophysiology is unclear and treatment is nonspecific. Faisalabad histiocytosis (FHC) (MIM 602782) has been classed as an autosomal recessively inherited form of histiocy...

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Opis bibliograficzny

Główni autorzy:	Neil V Morgan, Mark R Morris, Hakan Cangul, Diane Gleeson, Anna Straatman-Iwanowska, Nicholas Davies, Stephen Keenan, Shanaz Pasha, Fatimah Rahman, Dean Gentle, Maaike P G Vreeswijk, Peter Devilee, Margaret A Knowles, Serdar Ceylaner, Richard C Trembath, Carlos Dalence, Erol Kismet, Vedat Köseoğlu, Hans-Christoph Rossbach, Paul Gissen, David Tannahill, Eamonn R Maher
Format:	Artigo
Język:	Inglês
Wydane:	Public Library of Science (PLoS) 2010-02-01
Seria:	PLoS Genetics
Dostęp online:	https://doi.org/10.1371/journal.pgen.1000833
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