Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease (Q71639721)

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20 October 2019

title

Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7519941%20AND%20SRC:MED&resulttype=core&format=json

Pelizaeus-Merzbacher disease

20 October 2019

main subject

1 reference

Ellis D

1

1 reference

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20 October 2019

Malcolm S

series ordinal

2

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20 October 2019

publication date

1 April 1994

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20 October 2019

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20 October 2019

volume

6

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20 October 2019

issue

4

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20 October 2019

page(s)

333-334

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The leukodystrophies: a window to myelin

20 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0494-333

7 January 2021

A new mutation in the proteolipid protein (PLP) gene in a German family with pelizaeus-merzbacher disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0494-333

7 January 2021

Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder

1 reference

https://api.crossref.org/works/10.1038%2FNG0494-333

7 January 2021

Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid

1 reference

https://api.crossref.org/works/10.1038%2FNG0494-333

7 January 2021

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

1 reference

https://api.crossref.org/works/10.1038%2FNG0494-333

7 January 2021

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1038%2FNG0494-333

7 January 2021

Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

1 reference

https://api.crossref.org/works/10.1038%2FNG0494-333

7 January 2021

An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region

1 reference

https://api.crossref.org/works/10.1038%2FNG0494-333

7 January 2021

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1038%2FNG0494-333

7 January 2021

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0494-333

7 January 2021

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1038%2FNG0494-333

7 January 2021

Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A

1 reference

https://api.crossref.org/works/10.1038%2FNG0494-333

7 January 2021

Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.

1 reference

https://api.crossref.org/works/10.1038%2FNG0494-333

7 January 2021

Identifiers

DOI

10.1038/NG0494-333

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7519941%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference