CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype. (Q46933126)

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9 January 2020

title

CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype (English)

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9 January 2020

1

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Mariana Alves

4

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9 January 2020

Carla Andreia Teixeira

2

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Lacerda L

6

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9 January 2020

Maria Gil Ribeiro

9

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author name string

Dias A

3

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Rocha S

5

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Loureiro L

7

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Guimarães A

8

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publication date

23 October 2007

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Molecular Genetics and Metabolism

9 January 2020

published in

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volume

93

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page(s)

66-73

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issue

1

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The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH

9 January 2020

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7 January 2021

Identifiers

DOI

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9 January 2020

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