(Q48166316)

9 February 2018

title

A de novo splice donor site mutation causes in-frame deletion of 14 amino acids in the proteolipid protein in Pelizaeus-Merzbacher disease (English)

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9 February 2018

author name string

Aoyagi Y

1

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9 February 2018

Kobayashi H

2

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9 February 2018

Tanaka K

3

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9 February 2018

Ozawa T

4

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9 February 2018

Nitta H

5

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9 February 2018

Tsuji S

6

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9 February 2018

publication date

1 July 1999

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9 February 2018

published in

Annals of Neurology

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9 February 2018

volume

46

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9 February 2018

issue

1

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9 February 2018

page(s)

112-115

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9 February 2018

Genetics of Pelizaeus-Merzbacher disease

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199907%2946%3A1%3C112%3A%3AAID-ANA16%3E3.0.CO%3B2-U

Jimpy mutant mouse: a 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in RNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199907%2946%3A1%3C112%3A%3AAID-ANA16%3E3.0.CO%3B2-U

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199907%2946%3A1%3C112%3A%3AAID-ANA16%3E3.0.CO%3B2-U

Major Myelin proteolipid: the 4-alpha-helix topology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199907%2946%3A1%3C112%3A%3AAID-ANA16%3E3.0.CO%3B2-U

A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199907%2946%3A1%3C112%3A%3AAID-ANA16%3E3.0.CO%3B2-U

A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199907%2946%3A1%3C112%3A%3AAID-ANA16%3E3.0.CO%3B2-U

Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199907%2946%3A1%3C112%3A%3AAID-ANA16%3E3.0.CO%3B2-U

The rumpshaker mutation in spastic paraplegia

21 January 2018

1 reference

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Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199907%2946%3A1%3C112%3A%3AAID-ANA16%3E3.0.CO%3B2-U

In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199907%2946%3A1%3C112%3A%3AAID-ANA16%3E3.0.CO%3B2-U

Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199907%2946%3A1%3C112%3A%3AAID-ANA16%3E3.0.CO%3B2-U

10.1002/1531-8249(199907)46:1<112::AID-ANA16>3.0.CO;2-U

21 January 2018

Identifiers

DOI

1 reference

9 February 2018

1 reference

9 February 2018