(Q71482733)

English

A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family

scientific article published on 01 March 1996

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786077%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786077%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

Pelizaeus-Merzbacher disease

1 reference

based on heuristic

inferred from title

author name string

E A Sistermans

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786077%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

I J de Wijs

2

1 reference

Europe PubMed Central

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18 October 2019

R F de Coo

3

1 reference

Europe PubMed Central

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18 October 2019

L M Smit

4

1 reference

Europe PubMed Central

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18 October 2019

F H Menko

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786077%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

B A van Oost

6

1 reference

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18 October 2019

publication date

1 March 1996

1 reference

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18 October 2019

1 reference

Europe PubMed Central

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18 October 2019

97

1 reference

Europe PubMed Central

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18 October 2019

3

1 reference

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18 October 2019

337-339

1 reference

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18 October 2019

https://scigraph.springernature.com/pub.10.1007/bf02185767

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786077

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary structures of the wild-type and mutant alleles encoding the phosphatidylglycerophosphate synthase of Escherichia coli

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786077

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel beta-thalassemia mutation (G-->A) at the initiation codon of the beta-globin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786077

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786077

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786077

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786077

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786077

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Level of ATP synthase activity required for yeast Saccharomyces cerevisiae to grow on glycerol media

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786077

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF02185767

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786077%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786077%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

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