(Q61897317)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999337%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

title

Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999337%20AND%20SRC:MED&resulttype=core&format=json

familial hypercholesterolemia

22 September 2019

main subject

1 reference

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999337%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

author name string

N Lelli

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999337%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

M Ghisellini

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999337%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

S Calandra

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999337%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

A Gaddi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999337%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

A Ciarrocchi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999337%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

S Bertolini

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999337%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

publication date

1 February 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999337%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999337%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

volume

86

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999337%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999337%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

page(s)

359-362

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1999337%20AND%20SRC:MED&resulttype=core&format=json

Comparison of current methods for high-density lipoprotein cholesterol quantitation

22 September 2019

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia

1 reference

12 December 2020

Quantitative determination of serum triglycerides by the use of enzymes

1 reference

12 December 2020

Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene

1 reference

12 December 2020

Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors

1 reference

12 December 2020

Enzymatic determination of total serum cholesterol

1 reference

12 December 2020

Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype

1 reference

12 December 2020

A receptor-mediated pathway for cholesterol homeostasis

1 reference

12 December 2020

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

1 reference

12 December 2020

Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia

1 reference

12 December 2020

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

1 reference

12 December 2020

Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia

1 reference

12 December 2020

Molecular basis of familial hypercholesterolemia

1 reference

12 December 2020

Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia

1 reference

12 December 2020