Clinical utility gene card for: mucopolysaccharidosis type II.
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Clinical utility gene card for: mucopolysaccharidosis type II. / Beck, Michael; Wijburg, Frits A; Gal, Andreas.
in: EUR J HUM GENET, Jahrgang 20, Nr. 1, 1, 2012.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Clinical utility gene card for: mucopolysaccharidosis type II.
AU - Beck, Michael
AU - Wijburg, Frits A
AU - Gal, Andreas
PY - 2012
Y1 - 2012
KW - Diagnosis, Differential
KW - Humans
KW - Male
KW - Female
KW - Sensitivity and Specificity
KW - Genotype
KW - Prevalence
KW - Point Mutation
KW - Genetic Testing/methods
KW - Glycoproteins/genetics
KW - Mucopolysaccharidosis II/diagnosis/epidemiology/genetics
KW - Diagnosis, Differential
KW - Humans
KW - Male
KW - Female
KW - Sensitivity and Specificity
KW - Genotype
KW - Prevalence
KW - Point Mutation
KW - Genetic Testing/methods
KW - Glycoproteins/genetics
KW - Mucopolysaccharidosis II/diagnosis/epidemiology/genetics
M3 - SCORING: Journal article
VL - 20
JO - EUR J HUM GENET
JF - EUR J HUM GENET
SN - 1018-4813
IS - 1
M1 - 1
ER -