Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene (Q28287119)

object named as

C Van Broeckhoven

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author name string

E Nelis

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V Timmerman

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P De Jonghe

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A Vandenberghe

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D Pham-Dinh

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A Dautigny

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J J Martin

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

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language of work or name

English

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publication date

December 1994

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653-7

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cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation of the myelin Po gene in Charcot — Marie — Tooth neuropathy type 1B

1 reference

12 December 2020

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

1 reference

12 December 2020

DNA Sequence, genomic organization, and chromosomal localization of the mouse peripheral myelin protein zero gene: Identification of polymorphic alleles

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication

1 reference

12 December 2020

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

12 December 2020

Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin

1 reference

12 December 2020

Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Protein composition of myelin of the peripheral nervous system

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Homophilic adhesion of the myelin P0 protein requires glycosylation of both molecules in the homophilic pair

1 reference

12 December 2020

Mutation of the Myelin Po Gene in Charcot-Marie-Tooth Neuropathy Type 1

1 reference

12 December 2020

New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1

1 reference

12 December 2020

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

1 reference

12 December 2020

Complete amino acid sequence of PO protein in bovine peripheral nerve myelin

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020