(Q30332321)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485192%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

title

X-linked recessive Menkes disease: identification of partial gene deletions in affected males (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485192%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485192%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Lisbeth Birk Møller

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485192%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

author name string

L Poulsen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485192%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

N Horn

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485192%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

H Heilstrup

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485192%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

C Lund

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485192%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

publication date

1 December 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485192%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485192%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

volume

62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485192%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485192%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

page(s)

449-457

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485192%20AND%20SRC:MED&resulttype=core&format=json

Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping

15 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620605.X

Mutation spectrum of ATP7A, the gene defective in Menkes disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620605.X

Menkes Disease and the Occipital Horn Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620605.X

7 January 2021

Clinical manifestations and treatment of Menkes disease and its variants

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620605.X

7 January 2021

Characterization of the exon structure of the Menkes disease gene using vectorette PCR

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620605.X

7 January 2021

Molecular structure of the Menkes disease gene (ATP7A)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620605.X

7 January 2021

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620605.X

7 January 2021

A delicate balance: homeostatic control of copper uptake and distribution

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620605.X

7 January 2021

Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620605.X

7 January 2021

Menkes disease: recent advances and new aspects

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620605.X

7 January 2021

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620605.X

7 January 2021

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620605.X

7 January 2021

Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620605.X

7 January 2021

First trimester prenatal diagnosis of Menkes disease by DNA analysis.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620605.X

7 January 2021

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620605.X

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620605.X

7 January 2021

Carrier detection by microsatellite analysis of Duchenne/Becker muscular dystrophy in Hungarian families

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620605.X

7 January 2021

Menkes disease: underlying genetic defect and new diagnostic possibilities

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620605.X

7 January 2021

X-linked recessive Menkes disease: carrier detection in the case of a partial gene deletion.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620605.X

7 January 2021

10.1034/J.1399-0004.2002.620605.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485192%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

1 reference