(Q40807233)

23 September 2017

1 reference

title

Inherited neuropathies: the interface between molecular genetics and pathology (English)

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23 September 2017

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Thomas PK

1

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23 September 2017

Harding AE

series ordinal

2

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23 September 2017

publication date

1 April 1993

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23 September 2017

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23 September 2017

volume

3

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23 September 2017

issue

2

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23 September 2017

page(s)

129-133

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

23 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00737.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00737.X

Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00737.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00737.X

Trembler mouse carries a point mutation in a myelin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00737.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00737.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00737.X

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/10.1111%2FJ.1750-3639.1993.TB00737.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00737.X

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00737.X

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00737.X

X-linked spinomuscular atrophy: a kindred with associated abnormal androgen receptor binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00737.X

Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00737.X

Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00737.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00737.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00737.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00737.X

10.1111/J.1750-3639.1993.TB00737.X

21 January 2018

Identifiers

DOI

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23 September 2017

1 reference