Andreas GalSummaryAffiliation: University Medical Center Hamburg-Eppendorf Country: Germany Publications
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Publications
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine proteaseAndreas Gal
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
Am J Hum Genet 88:382-90. 2011..Molecular modeling of the p.Trp309Ser mutant suggests that both the affinity and reactivity of the enzyme toward in vivo protein substrates are likely to be substantially reduced...
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndromeNicole Muschol
Department of Paediatrics, University Medical Center Hamburg Eppendorf, Germany
Am J Med Genet A 155:1634-9. 2011....
