Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions
about
Use of DNA haplotype analysis in diagnosis of familial hypercholesterolaemia in 31 German familiesDeletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemiaGenetic basis of lipoprotein disorders.Common low-density lipoprotein receptor mutations in the French Canadian populationWhole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia.Polymorphic haplotypes and recombination rates at the LDL receptor gene locus in subjects with and without familial hypercholesterolemia who are from different populations.Polymorphic DNA haplotypes at the LDL receptor locusAdvantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment.Experimental and clinical applications of molecular cell biology in nutrition and metabolism.The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.Molecular basis of familial hypercholesterolemia: An Indian experienceThe genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.Severe von Willebrand disease due to a defect at the level of von Willebrand factor mRNA expression: detection by exonic PCR-restriction fragment length polymorphism analysis.A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect.Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians.Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.
P2860
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P2860
Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions
description
1988 nî lūn-bûn
@nan
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
1988年论文
@zh
1988年论文
@zh-cn
name
Multiple crm- mutations in fam ...... eles, including four deletions
@ast
Multiple crm- mutations in fam ...... eles, including four deletions
@en
type
label
Multiple crm- mutations in fam ...... eles, including four deletions
@ast
Multiple crm- mutations in fam ...... eles, including four deletions
@en
prefLabel
Multiple crm- mutations in fam ...... eles, including four deletions
@ast
Multiple crm- mutations in fam ...... eles, including four deletions
@en
P2093
P2860
P356
P1476
Multiple crm- mutations in fam ...... eles, including four deletions
@en
P2093
D W Russell
E Leitersdorf
J L Goldstein
P2860
P304
P356
10.1172/JCI113402
P407
P577
1988-03-01T00:00:00Z