Genetic variants associated with gastrointestinal symptoms in Fabry disease

Gastrointestinal symptoms (GIS) are often among the earliest presenting events in Fabry disease (FD), an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A. Despite recent advances in clinical and molecular characterization of FD, the pathophysiology of the GIS is still poorly...

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Veröffentlicht in:	Oncotarget 2016-12, Vol.7 (52), p.85895-85904
Hauptverfasser:	Di Martino, Maria Teresa, Scionti, Francesca, Sestito, Simona, Nicoletti, Angela, Arbitrio, Mariamena, Hiram Guzzi, Pietro, Talarico, Valentina, Altomare, Federica, Sanseviero, Maria Teresa, Agapito, Giuseppe, Pisani, Antonio, Riccio, Eleonora, Borrelli, Osvaldo, Concolino, Daniela, Pensabene, Licia
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult ATP Binding Cassette Subfamily B Member 11 - genetics Fabry Disease - complications Fabry Disease - genetics Female Gastrointestinal Diseases - genetics Genetic Variation Genotyping Techniques Humans Male Middle Aged Polymorphism, Single Nucleotide Precision Medicine Research Paper
Online-Zugang:	Volltext
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