(Q28288680)

2

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E Nelis

3

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C Bonnebouche

4

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F Chapon

5

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P Diraison

6

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E Ollagnon

7

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A Dautigny

8

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D Pham-Dinh

9

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G Chazot

Diagnostic criteria for autosomal dominant hereditary motor and sensory neuropathy type Ia

10

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language of work or name

English

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publication date

1995

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published in

Human Mutation

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volume

6

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issue

1

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page(s)

50-4

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060110

7 January 2021

Dideoxy sequencing method using denatured plasmid templates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060110

7 January 2021

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060110

7 January 2021

Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060110

7 January 2021

Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060110

7 January 2021

De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060110

7 January 2021

DNA typing from single hairs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060110

7 January 2021

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060110

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/10.1002%2FHUMU.1380060110

7 January 2021

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060110

7 January 2021

Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060110

7 January 2021

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060110

7 January 2021

The major peripheral myelin protein zero gene: structure and localization in the cluster of Fc gamma receptor genes on human chromosome 1q21.3-q23

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060110

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060110

7 January 2021

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060110

7 January 2021

Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060110

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/10.1002%2FHUMU.1380060110

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/10.1002%2FHUMU.1380060110

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/10.1002%2FHUMU.1380060110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060110

7 January 2021

release_om2k7n4afjb57b3xhh3nhs2efa

Identifiers

DOI

10.1002/HUMU.1380060110

0 references

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/om2k7n4afjb57b3xhh3nhs2efa

24 November 2022