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, Vol. 20, No. 1, 1, 2012.

Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

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@article{514295b7bc0e4a5db021b8e96f714671,
title = "Clinical utility gene card for: mucopolysaccharidosis type II.",
keywords = "Diagnosis, Differential, Humans, Male, Female, Sensitivity and Specificity, Genotype, Prevalence, Point Mutation, Genetic Testing/*methods, Glycoproteins/*genetics, Mucopolysaccharidosis II/*diagnosis/epidemiology/genetics, Diagnosis, Differential, Humans, Male, Female, Sensitivity and Specificity, Genotype, Prevalence, Point Mutation, Genetic Testing/*methods, Glycoproteins/*genetics, Mucopolysaccharidosis II/*diagnosis/epidemiology/genetics",
author = "Michael Beck and Wijburg, {Frits A} and Andreas Gal",
year = "2012",
language = "English",
volume = "20",
journal = "EUR J HUM GENET",
issn = "1018-4813",
publisher = "NATURE PUBLISHING GROUP",
number = "1",

}

RIS

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 -