(Q74460758)

English

Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR

scientific article published on 01 August 2001

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536268%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536268%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

gene duplication

1 reference

based on heuristic

inferred from title

Pelizaeus-Merzbacher disease

1 reference

based on heuristic

inferred from title

Gloria Bonuccelli

6

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536268%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

S Regis

1

1 reference

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10 November 2019

M Filocamo

2

1 reference

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10 November 2019

R Mazzotti

3

1 reference

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10 November 2019

R Cusano

4

1 reference

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10 November 2019

F Corsolini

5

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10 November 2019

M Stroppiano

7

1 reference

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10 November 2019

R Gatti

8

1 reference

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10 November 2019

publication date

1 August 2001

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10 November 2019

Prenatal Diagnosis

1 reference

Europe PubMed Central

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10 November 2019

21

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10 November 2019

8

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10 November 2019

668-671

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10 November 2019

The molecular pathogenesis of Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1002%2FPD.112

21 January 2018

Genetics of Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1002%2FPD.112

21 January 2018

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations

1 reference

https://api.crossref.org/works/10.1002%2FPD.112

21 January 2018

Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene

1 reference

https://api.crossref.org/works/10.1002%2FPD.112

21 January 2018

Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males.

1 reference

https://api.crossref.org/works/10.1002%2FPD.112

21 January 2018

Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1002%2FPD.112

21 January 2018

Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.

1 reference

https://api.crossref.org/works/10.1002%2FPD.112

21 January 2018

Prenatal diagnosis by FISH in a family with Pelizaeus-Merzbacher disease caused by duplication of PLP gene

1 reference

https://api.crossref.org/works/10.1002%2FPD.112

21 January 2018

Identifiers

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536268%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536268%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

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