(Q24540145)

6 July 2017

title

The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27 (English)

1 reference

leukoencephalopathy with vanishing white matter

6 July 2017

0 references

0 references

Leegwater PA

1

P A

Leegwater

1 reference

6 July 2017

Könst AA

2

A A

Könst

1 reference

6 July 2017

Kuyt B

3

B

Kuyt

1 reference

6 July 2017

Sandkuijl LA

4

L A

Sandkuijl

1 reference

6 July 2017

Naidu S

5

S

Naidu

1 reference

6 July 2017

Oudejans CB

6

C B

Oudejans

1 reference

6 July 2017

Schutgens RB

7

R B

Schutgens

1 reference

6 July 2017

Pronk JC

8

J C

Pronk

1 reference

6 July 2017

van der Knaap MS

9

M S

van der Knaap

1 reference

6 July 2017

language of work or name

English

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publication date

1 September 1999

1 reference

American Journal of Human Genetics

6 July 2017

published in

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6 July 2017

volume

65

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6 July 2017

issue

3

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6 July 2017

page(s)

728-734

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Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

6 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377979

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377979

Isolation and characterization of a novel oligodendrocyte-specific protein

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377979

Chromosomal localization of murine and human oligodendrocyte-specific protein genes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377979

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377979

Peroxisomal bifunctional enzyme deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377979

A method for constructing radiation hybrid maps of whole genomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377979

Oligodendrocyte-specific protein (OSP) is a major component of CNS myelin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377979

A new leukoencephalopathy with vanishing white matter

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377979

Childhood ataxia with diffuse central nervous system hypomyelination

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377979

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377979

Phenotypic variation in leukoencephalopathy with vanishing white matter

29 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy

1 reference

12 December 2020

Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination

1 reference

12 December 2020

Perspectives of identity by descent (IBD) mapping in founder populations

1 reference

12 December 2020

A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activities

1 reference

12 December 2020

Identifiers

DOI

10.1086/302548

1 reference

release_ev2lzqi4ajbnbdcxviqusv2sou

6 July 2017

Fatcat ID

0 references

PMC publication ID

1377979

1 reference

6 July 2017

1 reference