(Q34993165)

5 August 2017

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title

Prenatal diagnosis of Pelizaeus-Merzbacher disease (English)

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5 August 2017

James Garbern

1

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5 August 2017

Grace Hobson

series ordinal

2

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5 August 2017

publication date

1 November 2002

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5 August 2017

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5 August 2017

volume

22

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5 August 2017

issue

11

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5 August 2017

page(s)

1033-1035

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Healthy deliveries from biopsied human embryos

5 August 2017

cites work

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Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome

21 January 2018

1 reference

Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain

21 January 2018

1 reference

Molecular diagnostics in preimplantation genetic diagnosis

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease

21 January 2018

1 reference

A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease

21 January 2018

1 reference

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

21 January 2018

1 reference

Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease

21 January 2018

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Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis

21 January 2018

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New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease

21 January 2018

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/PD.465

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5 August 2017

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