A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier (Q34055332)

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English	A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

30 July 2017

A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier (English)

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Europe PubMed Central

PubMed publication ID

30 July 2017

neuronal ceroid lipofuscinosis

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based on heuristic

inferred from title

Thomas Meitinger

6

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Europe PubMed Central

PubMed publication ID

30 July 2017

7

object named as

Ottmar Distl

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PubMed publication ID

30 July 2017

5

object named as

Peter Lichtner

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Europe PubMed Central

PubMed publication ID

30 July 2017

author name string

Anne Wöhlke

1

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Europe PubMed Central

PubMed publication ID

30 July 2017

Ute Philipp

2

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Europe PubMed Central

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30 July 2017

Patricia Bock

3

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Europe PubMed Central

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30 July 2017

Andreas Beineke

4

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30 July 2017

publication date

13 October 2011

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30 July 2017

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Europe PubMed Central

PubMed publication ID

30 July 2017

7

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30 July 2017

10

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Europe PubMed Central

PubMed publication ID

30 July 2017

e1002304

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Europe PubMed Central

PubMed publication ID

30 July 2017

copyright license

Creative Commons Attribution 4.0 International

13 October 2011

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April 2022 Public Data File from Crossref

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1 reference

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A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund

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Genomic features defining exonic variants that modulate splicing

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals

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A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3.

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1 reference

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Evaluation of the canine TPP1 gene as a candidate for neuronal ceroid lipofuscinosis in Tibetan Terrier and Polish Owczarek Nizinny dogs.

1 reference

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5 July 2018

The genetic spectrum of human neuronal ceroid-lipofuscinoses

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A 1-Mb resolution radiation hybrid map of the canine genome

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Lysosomal Storage Diseases of Animals: An Essay in Comparative Pathology

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5 July 2018

Tibetan terrier model of canine ceroid lipofuscinosis

1 reference

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5 July 2018

A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA.

1 reference

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21 January 2018

Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene

1 reference

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21 January 2018

A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis

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Characterization of candidate genes for neuronal ceroid lipofuscinosis in dog.

1 reference

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A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.

1 reference

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Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma.

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Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.

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The canine CTSD gene as a candidate for late-onset neuronal ceroid lipofuscinosis

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12 December 2020

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inferred from PubMed ID database lookup

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10.1371/JOURNAL.PGEN.1002304

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

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