(Q71720931)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550226%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

title

Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550226%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference

Hone J

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550226%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Accili D

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550226%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Psiachou H

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550226%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Alghband-Zadeh J

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550226%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Mitton S

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550226%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Wertheimer E

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550226%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Sinclair L

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550226%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Taylor SI

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550226%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

publication date

1 January 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550226%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550226%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550226%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

page(s)

17-22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550226%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550226%20AND%20SRC:MED&resulttype=core&format=json

Detection of Mutations in Insulin Receptor Gene by Denaturing Gradient Gel Electrophoresis

20 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060105

7 January 2021

Specificity spillover at the hormone receptor--exploring its role in human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060105

7 January 2021

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060105

7 January 2021

Two patients with insulin resistance due to decreased levels of insulin-receptor mRNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060105

7 January 2021

Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060105

7 January 2021

Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060105

7 January 2021

A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060105

7 January 2021

Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060105

7 January 2021

Activation of glucose transport by a natural mutation in the human insulin receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060105

7 January 2021

A leucine to proline mutation at position 233 in the insulin receptor inhibits cleavage of the proreceptor and transport to the cell surface

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060105

7 January 2021

Leprechaunism and homozygous nonsense mutation in the insulin receptor gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060105

7 January 2021

Human insulin-receptor gene. Partial sequence and amplification of exons by polymerase chain reaction.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060105

7 January 2021

Lilly Lecture: molecular mechanisms of insulin resistance. Lessons from patients with mutations in the insulin-receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060105

7 January 2021

Homozygous deletion of the human insulin receptor gene results in leprechaunism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060105

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380060105

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550226%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference