Yazar "Gissen, Paul" için listeleme
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Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome
Smith, Holly; Galmes, Romain; Gogolina, Ekaterina; Straatman-Iwanowska, Anna; Reay, Kim; Banushi, Blerida; Gissen, Paul (Wiley, 2012)Arthrogryposisrenal dysfunctioncholestasis (ARC) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in vacuolar protein sorting 33 homologue B (VPS33B) and VPS33B interacting protein, ...