Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.
about
Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.Clinical utility gene card for: hyperlipoproteinemia, TYPE II.Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based studyCascade Screening for Familial Hypercholesterolemia (FH)Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genesA Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.Plasma levels of PCSK9 and phenotypic variability in familial hypercholesterolemia.Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense VariantsFamilial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.
P2860
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P2860
Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.
description
2010 nî lūn-bûn
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2010年の論文
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2010年学术文章
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2010年学术文章
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name
Functionality of sequence vari ...... nherited hypercholesterolemia.
@en
Functionality of sequence vari ...... nherited hypercholesterolemia.
@nl
type
label
Functionality of sequence vari ...... nherited hypercholesterolemia.
@en
Functionality of sequence vari ...... nherited hypercholesterolemia.
@nl
prefLabel
Functionality of sequence vari ...... nherited hypercholesterolemia.
@en
Functionality of sequence vari ...... nherited hypercholesterolemia.
@nl
P2093
P356
P1433
P1476
Functionality of sequence vari ...... nherited hypercholesterolemia.
@en
P2093
Barbara A Hutten
Iris Kindt
Joep C Defesche
John J P Kastelein
Maud N Vissers
Roeland Huijgen
Sigrid W Fouchier
P304
P356
10.1002/HUMU.21258
P577
2010-06-01T00:00:00Z