The autosomal recessive form of CMT disease linked to 5q31-q33.

about

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.

P2860

Q24650643-D629478C-F63A-4422-98A1-9B3C44920131 Q36507147-7061E358-4FD0-4AE2-8E1B-DA197DDDA2E7

P2860

The autosomal recessive form of CMT disease linked to 5q31-q33.

Item

http://www.wikidata.org/entity/Q39035900

description

1999 nî lūn-bûn

@nan

1999年の論文

@ja

1999年論文

@yue

1999年論文

@zh-hant

1999年論文

@zh-hk

1999年論文

@zh-mo

1999年論文

@zh-tw

1999年论文

@wuu

1999年论文

@zh

1999年论文

@zh-cn

name

The autosomal recessive form of CMT disease linked to 5q31-q33.

@en

The autosomal recessive form of CMT disease linked to 5q31-q33.

@nl

type

Item

label

The autosomal recessive form of CMT disease linked to 5q31-q33.

@en

The autosomal recessive form of CMT disease linked to 5q31-q33.

@nl

prefLabel

The autosomal recessive form of CMT disease linked to 5q31-q33.

@en

The autosomal recessive form of CMT disease linked to 5q31-q33.

@nl

P1476

The autosomal recessive form of CMT disease linked to 5q31-q33.

@en

P2093

Bouhouche A

http://www.w3.org/2001/XMLSchema#string

Brice A

http://www.w3.org/2001/XMLSchema#string

Grid D

http://www.w3.org/2001/XMLSchema#string

Guilbot A

http://www.w3.org/2001/XMLSchema#string

Hammadouche T

http://www.w3.org/2001/XMLSchema#string

Kessali M

http://www.w3.org/2001/XMLSchema#string

LeGuern E

http://www.w3.org/2001/XMLSchema#string

Maisonobe T

http://www.w3.org/2001/XMLSchema#string

Ravisé N

http://www.w3.org/2001/XMLSchema#string

P2860

A comprehensive genetic map of the human genome based on 5,264 microsatellites

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

Molecular cloning, sequencing and expression of the mRNA encoding human Cdx1 and Cdx2 homeobox. Down-regulation of Cdx1 and Cdx2 mRNA expression during colorectal carcinogenesis

Disruption of the murine homeobox gene Cdx1 affects axial skeletal identities by altering the mesodermal expression domains of Hox genes

Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.

Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.

A YAC contig of approximately 3 Mb from human chromosome 5q31-->q33.

A physical map of 15 loci on human chromosome 5q23-q33 by two-color fluorescence in situ hybridization.

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

Physical and Genetic Mapping of the CMT4A Locus and Exclusion of PMP-2 as the Defect in CMT4A

P304

453-456

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1111/J.1749-6632.1999.TB08608.X

http://www.w3.org/2001/XMLSchema#string

P407

English

P478

883

http://www.w3.org/2001/XMLSchema#string

P577

1999-09-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

10586271

http://www.w3.org/2001/XMLSchema#string

The autosomal recessive form of CMT disease linked to 5q31-q33.

about

P2860

P2860

The autosomal recessive form of CMT disease linked to 5q31-q33.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P478

P577

P698