(Q78476892)

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Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population

scientific article published on 01 December 2002

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12417285%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12417285%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

familial hypercholesterolemia

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based on heuristic

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Wenxin Yu

1

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Europe PubMed Central

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14 December 2019

Atsushi Nohara

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12417285%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Toshinori Higashikata

3

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14 December 2019

Hong Lu

4

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14 December 2019

Akihiro Inazu

5

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14 December 2019

Hiroshi Mabuchi

6

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14 December 2019

publication date

1 December 2002

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14 December 2019

Atherosclerosis

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14 December 2019

165

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14 December 2019

2

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14 December 2019

335-342

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14 December 2019

Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900249-6

7 January 2021

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900249-6

7 January 2021

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900249-6

7 January 2021

Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity

1 reference

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7 January 2021

Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands

1 reference

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7 January 2021

Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein

1 reference

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7 January 2021

New variant of low density lipoprotein receptor gene. FH-Tonami

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900249-6

7 January 2021

Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900249-6

7 January 2021

Novel gene mutations at the low density lipoprotein receptor locus: FH-Kanazawa and FH-Okayama

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900249-6

7 January 2021

Two novel frameshift mutations associated with the presence of direct repeats of the LDL receptor gene in familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900249-6

7 January 2021

A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900249-6

7 January 2021

Common Mutations in the Low-Density-Lipoprotein–Receptor Gene Causing Familial Hypercholesterolemia in the Japanese Population

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900249-6

7 January 2021

Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900249-6

7 January 2021

New type of the internalization-defective low-density lipoprotein receptor owing to two-nucleotide deletion (2199delCA or 2201delCA) in Japanese patients with familial hypercholesterolaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900249-6

7 January 2021

Development of coronary heart disease in familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900249-6

7 January 2021

Clinically applicable mutation screening in familial hypercholesterolemia

1 reference

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7 January 2021

Association of polymorphisms at the SR-BI gene locus with plasma lipid levels and body mass index in a white population

1 reference

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7 January 2021

The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA

1 reference

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7 January 2021

Absence of familial defective apolipoprotein B-100 in Japanese patients with familial hypercholesterolaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900249-6

7 January 2021

Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900249-6

7 January 2021

Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2802%2900249-6

7 January 2021

Genetic variation at the apolipoprotein gene loci contribute to response of plasma lipids to dietary change

1 reference

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7 January 2021

Serum lipids and coronary heart disease in heterozygous familial hypercholesterolemia in the Hokuriku district of Japan

1 reference

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7 January 2021

Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism

1 reference

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7 January 2021

Genetic basis of sitosterolemia

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7 January 2021

Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia

1 reference

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7 January 2021

Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype.

1 reference

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7 January 2021

A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32

1 reference

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7 January 2021

Identifiers

10.1016/S0021-9150(02)00249-6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12417285%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12417285%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

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