Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease (Q77477196)

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5 December 2019

title

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

1 reference

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Pelizaeus-Merzbacher disease

5 December 2019

main subject

1 reference

K Inoue

1

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5 December 2019

M Kanai

2

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5 December 2019

Y Tanabe

3

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5 December 2019

T Kubota

4

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5 December 2019

C D Kashork

5

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5 December 2019

K Wakui

6

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5 December 2019

Y Fukushima

7

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5 December 2019

J R Lupski

8

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5 December 2019

L G Shaffer

9

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5 December 2019

publication date

1 December 2001

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5 December 2019

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5 December 2019

volume

21

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5 December 2019

issue

13

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5 December 2019

page(s)

1133-1136

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Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease

5 December 2019

cites work

1 reference

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

21 January 2018

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

21 January 2018

1 reference

Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization

21 January 2018

1 reference

Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis

21 January 2018

1 reference

Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene

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

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

21 January 2018

1 reference

Neuropathology and genetics of Pelizaeus-Merzbacher disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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

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

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/PD.186

1 reference

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5 December 2019

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