(Q61897321)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1969842%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

title

Use of three DNA polymorphisms of the LDL receptor gene in the diagnosis of familial hypercholesterolemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1969842%20AND%20SRC:MED&resulttype=core&format=json

familial hypercholesterolemia

21 September 2019

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1969842%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

Domenico Coviello

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1969842%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

author name string

T Mattioni

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1969842%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

R Balestreri

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1969842%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

G Corte

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1969842%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

S Bertolini

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1969842%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

publication date

1 April 1990

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1969842%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1969842%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

volume

84

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1969842%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1969842%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

page(s)

412-416

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1969842%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00195811

21 September 2019

exact match

0 references

cites work

Construction of a genetic linkage map in man using restriction fragment length polymorphisms

1 reference

12 December 2020

Identification of deletions in the human low density lipoprotein receptor gene

1 reference

12 December 2020

The Finnish type of the LDL receptor gene mutation: molecular characterization of the deleted gene and the corresponding mRNA

1 reference

12 December 2020

Deletion 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 hypercholesterolemia

1 reference

12 December 2020

Molecular basis of familial hypercholesterolemia

1 reference

12 December 2020

Four DNA polymorphisms in the LDL receptor gene: their genetic relationship and use in the study of variation at the LDL receptor locus.

1 reference

12 December 2020

Four DNA polymorphisms in the LDL-receptor gene and their use in diagnosis of familial hypercholesterolemia

1 reference

12 December 2020

Pvu II polymorphism of low density lipoprotein receptor gene and familial hypercholesterolemia. Study of Italians

1 reference

12 December 2020

Polymorphic DNA haplotypes at the LDL receptor locus

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

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

Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster

1 reference

12 December 2020

The LDL Receptor Defect in Familial Hypercholesterolemia: Implications for Pathogenesis and Therapy

1 reference

12 December 2020

Familial hypercholesterolemia in South African Afrikaners. PvuII and StuI DNA polymorphisms in the LDL-receptor gene consistent with a predominating founder gene effect.

1 reference

12 December 2020

Diagnosing familial hypercholesterolaemia in childhood by measuring serum cholesterol.

1 reference

12 December 2020

Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH)

1 reference

12 December 2020

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

1 reference

12 December 2020

Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain

1 reference

12 December 2020