(Q73267694)

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The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B

scientific article published on 01 March 2003

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12694237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12694237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Niemann-Pick disease

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Miguel Fernandez-Burriel

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12694237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

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L Peña

2

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2 November 2019

J C Ramos

3

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2 November 2019

J C Cabrera

4

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2 November 2019

M Marti

5

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2 November 2019

F Rodríguez-Quiñones

6

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2 November 2019

A Chabás

7

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2 November 2019

publication date

1 March 2003

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2 November 2019

Clinical Genetics

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2 November 2019

63

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2 November 2019

3

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2 November 2019

235-236

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2 November 2019

Major genomic mitochondrial lineages delineate early human expansions

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00025.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00025.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00025.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00025.X

7 January 2021

based on heuristic

inferred from DOI database lookup

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00025.X

7 January 2021

based on heuristic

inferred from DOI database lookup

High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00025.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1034/J.1399-0004.2003.00025.X

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12694237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12694237%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

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