Τίτλος:
Gaucher disease: Frequency of the N370S mutation in the Greek population
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Δεν υπάρχει περίληψη
Συγγραφείς:
Dimitriou, E.
Moraitou, M.
Troungos, C.
Schulpis, K.
Michelakakis, H.
Περιοδικό:
Application of Clinical Genetics
Λέξεις-κλειδιά:
chitotriosidase; genomic DNA; N370S protein; protein; unclassified drug; glucosylceramidase, enzyme activity; Gaucher disease; gene deletion; gene frequency; gene mutation; genotype; Greece; heterozygote; homozygote; human; letter; mutational analysis; phenotype; population genetics; priority journal; adolescent; adult; child; enzymology; genetics; mutation; patient referral, Adolescent; Adult; Child; Gaucher Disease; Glucosylceramidase; Greece; Homozygote; Humans; Mutation; Referral and Consultation; Young Adult
DOI:
10.1111/j.1399-0004.2010.01381.x
