(Q24669755)

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Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1384324%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1384324%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

Pelizaeus-Merzbacher disease

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Baraitser M

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Europe PubMed Central

19 September 2019

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Strautnieks S

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1384324%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

Rutland P

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1384324%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

Winter RM

3

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Europe PubMed Central

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19 September 2019

Malcolm S

5

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19 September 2019

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1 October 1992

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Europe PubMed Central

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19 September 2019

American Journal of Human Genetics

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19 September 2019

51

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19 September 2019

4

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19 September 2019

871-878

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19 September 2019

Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682779

7 April 2017

Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682779

7 April 2017

Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682779

7 April 2017

Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682779

7 April 2017

A new mutation in the proteolipid protein (PLP) gene in a German family with pelizaeus-merzbacher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682779

7 April 2017

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682779

7 April 2017

Identification and characterization of the familial adenomatous polyposis coli gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682779

7 April 2017

Structure and molecular arrangement of proteolipid protein of central nervous system myelin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682779

28 September 2017

A rapid method for the purification of DNA from blood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682779

28 September 2017

Autosomal recessive form of connatal Pelizaeus-Merzbacher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682779

28 September 2017

MSP RFLP for X-linked proteolipid protein gene (PLP) identified with either rat or human PLP cDNA clone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682779

28 September 2017

PCR-SSCP: a simple and sensitive method for detection of mutations in the genomic DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682779

28 September 2017

AhaII polymorphism in human X-linked proteolipid protein gene (PLP)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682779

28 September 2017

Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682779

30 May 2018

Pelizaeus-Merzbacher disease: classical or connatal?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682779

30 May 2018

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682779

30 May 2018

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1384324%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

PubMed publication ID

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1384324%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

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