(Q28264415)

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Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18190596%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18190596%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

6

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31 December 2019

Catherine Laprise

9

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Europe PubMed Central

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31 December 2019

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M Plante

1

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31 December 2019

S Claveau

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18190596%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

P Lepage

3

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Europe PubMed Central

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31 December 2019

E-M Lavoie

4

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Europe PubMed Central

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31 December 2019

S Brunet

5

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Europe PubMed Central

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31 December 2019

C Morin

7

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Europe PubMed Central

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31 December 2019

H Vézina

8

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Europe PubMed Central

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31 December 2019

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7 January 2008

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31 December 2019

Clinical Genetics

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Europe PubMed Central

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31 December 2019

73

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Europe PubMed Central

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31 December 2019

3

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Europe PubMed Central

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31 December 2019

236-244

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Europe PubMed Central

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31 December 2019

The frequency of lysosomal storage diseases in The Netherlands.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00954.X

21 January 2018

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00954.X

21 January 2018

Consed: a graphical tool for sequence finishing

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00954.X

21 January 2018

The Processing of Ambiguous Links in Computerized Family Reconstruction

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00954.X

21 January 2018

Identifiers

10.1111/J.1399-0004.2007.00954.X

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18190596%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

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Consolidated OpenCitations Corpus – April 2017

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PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18190596%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

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