Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A (Q55671003)

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J E Hoogendijk

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N H van den Bosch

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A W Gabreëls-Festen

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M de Visser

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P A Bolhuis

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Valentijn LJ

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11 September 2022

Baas F

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Wolterman RA

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11 September 2022

Hoogendijk JE

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van den Bosch NH

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Zorn I

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Gabreëls-Festen AW

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de Visser M

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Bolhuis PA

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https://scigraph.springernature.com/pub.10.1038/ng1292-288

11 September 2022

language of work or name

English

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publication date

December 1992

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published in

Nature Genetics

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volume

2

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issue

4

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page(s)

288-91

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exact match

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cites work

De-novo mutation in hereditary motor and sensory neuropathy type I.

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

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Trembler mouse carries a point mutation in a myelin gene

21 January 2018

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https://api.crossref.org/works/10.1038%2FNG1292-288

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1292-288

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

21 January 2018

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Enzymatic activity of a synthetic 99 residue protein corresponding to the putative HIV-1 protease

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A growth arrest-specific (gas) gene codes for a membrane protein

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Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene

21 January 2018

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

21 January 2018

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Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

21 January 2018

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The clinical features of hereditary motor and sensory neuropathy types I and II

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7 January 2021

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

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Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.

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Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc? receptor gene region

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DNA duplication associated with Charcot-Marie-Tooth disease type 1A

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The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2

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7 January 2021

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group

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A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse

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7 January 2021

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

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7 January 2021

Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a)

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7 January 2021

Genes specifically expressed at growth arrest of mammalian cells

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A myelin protein is encoded by the homologue of a growth arrest-specific gene

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Prediction of protein conformation

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7 January 2021

Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I)

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7 January 2021

Dimensions Publication ID

Identifiers

DOI

10.1038/NG1292-288

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1030313048

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