(Q34113257)

English

Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families

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scholarly article

1 reference

Europe PubMed Central

31 July 2017

Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families (English)

1 reference

Europe PubMed Central

31 July 2017

hypercholesterolemia

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1 reference

based on heuristic

inferred from title

object named as

McCarthy MI

4

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author name string

Eden ER

1

1 reference

Europe PubMed Central

31 July 2017

Naoumova RP

2

1 reference

Europe PubMed Central

31 July 2017

Burden JJ

3

1 reference

Europe PubMed Central

31 July 2017

Soutar AK

5

1 reference

Europe PubMed Central

31 July 2017

language of work or name

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publication date

9 February 2001

1 reference

Europe PubMed Central

31 July 2017

American Journal of Human Genetics

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Europe PubMed Central

31 July 2017

68

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Europe PubMed Central

31 July 2017

653-660

1 reference

Europe PubMed Central

31 July 2017

3

1 reference

Europe PubMed Central

31 July 2017

A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274478

5 July 2018

Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274478

5 July 2018

Recognition of sorting signals by clathrin adaptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274478

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274478

5 July 2018

Interaction of cytosolic adaptor proteins with neuronal apolipoprotein E receptors and the amyloid precursor protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274478

5 July 2018

The LDL receptor clustering motif interacts with the clathrin terminal domain in a reverse turn conformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274478

5 July 2018

Linkage thresholds for two-stage genome scans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274478

5 July 2018

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274478

5 July 2018

Faster sequential genetic linkage computations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274478

5 July 2018

Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274478

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274478

5 July 2018

High-resolution genetic mapping of complex traits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274478

5 July 2018

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274478

5 July 2018

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274478

28 October 2018

Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274478

28 October 2018

Severe hypercholesterolaemia: unusual inheritance in an Italian pedigree

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274478

9 December 2018

Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179013

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179013

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179013

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179013

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

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