(Q24540252)

17

0 references

Michel Krempf

object named as

M Krempf

8

0 references

Catherine Boileau

0 references

Mathilde Varret

1 reference

ORCID Public Data File 2021

author name string

M Varret

1

0 references

J P Rabès

2

0 references

B Saint-Jore

3

0 references

A Cenarro

4

0 references

J C Marinoni

5

0 references

F Civeira

6

0 references

M Devillers

7

0 references

M Coulon

9

0 references

R Thiart

10

0 references

M J Kotze

11

0 references

H Schmidt

12

0 references

J C Buzzi

13

0 references

G M Kostner

14

0 references

S Bertolini

15

0 references

M Pocovi

16

0 references

M Farnier

18

0 references

M Martinez

19

0 references

C Junien

20

0 references

C Boileau

American Journal of Human Genetics

21

0 references

language of work or name

English

0 references

publication date

May 1999

0 references

published in

0 references

volume

64

0 references

page(s)

1378-87

0 references

issue

5

0 references

cites work

The human eps15 gene, encoding a tyrosine kinase substrate, is conserved in evolution and maps to 1p31-p32

1 reference

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

24 March 2017

1 reference

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Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes

24 March 2017

1 reference

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

24 March 2017

1 reference

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Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23

24 March 2017

1 reference

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Exon/intron organization, chromosome localization, alternative splicing, and transcription units of the human apolipoprotein E receptor 2 gene

24 March 2017

1 reference

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Parametric and nonparametric linkage analysis: a unified multipoint approach

24 March 2017

1 reference

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

24 March 2017

1 reference

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Allele-sharing models: LOD scores and accurate linkage tests

27 September 2017

1 reference

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Software and database for the analysis of mutations in the human LDL receptor gene

27 September 2017

1 reference

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The human mammary-derived growth inhibitor (MDGI) gene: genomic structure and mutation analysis in human breast tumors

27 September 2017

1 reference

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Evidence of non-deficient low-density lipoprotein receptor patients in a pool of subjects with clinical familial hypercholesterolemia profile

27 September 2017

1 reference

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Influence of apolipoprotein E genotype on senile dementia of the Alzheimer and Lewy body types. Significance for etiological theories of Alzheimer's disease.

27 September 2017

1 reference

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The structure of the human sterol carrier protein X/sterol carrier protein 2 gene (SCP2).

27 September 2017

1 reference

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A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

27 September 2017

1 reference

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The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance

27 September 2017

1 reference

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

27 September 2017

1 reference

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Human apolipoprotein B-100: cloning, analysis of liver mRNA, and assignment of the gene to chromosome 2.

27 September 2017

1 reference

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cDNAs Encoding Members of a Family of Proteins Related to Human Sterol Carrier Protein 2 and Assignment of the Gene to Human Chromosome 1 p21→pter

27 September 2017

1 reference

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Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia.

27 September 2017

1 reference

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30 May 2018

1 reference

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Low density lipoprotein metabolism and receptor studies in a patient with pseudohomozygous familial hypercholesterolaemia

30 May 2018

1 reference

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Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. The Familial Hypercholesterolaemia Regression Study Group

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377874

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377874

Familial combined hyperlipidaemia linked to the apolipoprotein AI–CIII–AIV gene cluster on chromosome 11q23q–q24

29 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay

1 reference

12 December 2020

Linkage analysis and family classification under heterogeneity

1 reference

12 December 2020

Documented need for more effective diagnosis and treatment of familial hypercholesterolemia according to data from 502 heterozygotes in Utah

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302370

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/302370

1 reference

4419277

4419277

1 reference

1 reference

1 reference