Molecular study of portuguese patients with clinical diagnosis of Shwachman-Diamond syndrome

Costa, Elísio; Oliveira, Jorge Manuel Santos Marques; Vieira, Emília; Garcia, Paula; Gonçalves, Isabel; Diogo, Luisa; Barbot, José; Santos, Rosário

http://hdl.handle.net/10198/551

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Authors

Costa, Elísio

Oliveira, Jorge Manuel Santos Marques

Abstract(s)

Shwadurun-Diamond syndrome (SDS; MIM# 260400) is a rare autosomal recessive disorder characterized by the association of exocrine pancreatic and bone marrow disfunction.

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Shwachman-Diamond syndrome Portugal

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http://hdl.handle.net/10198/551

Citation

Congress of the European Hematology Association. 12. Vienna, 2007

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European Hematology Association

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ESSa - Publicações em Proceedings Indexadas à WoS/Scopus

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Molecular study of portuguese patients with clinical diagnosis of Shwachman-Diamond syndrome

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