(Q57915572)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12599189%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing (English)

1 reference

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31 October 2019

1 reference

hemophagocytic lymphohistiocytosis

1 reference

5

1 reference

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31 October 2019

Elma Z Tchilian

6

1 reference

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31 October 2019

author name string

James McCormick

1

1 reference

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31 October 2019

Stephan Strobel

3

1 reference

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31 October 2019

Darren R Flower

2

1 reference

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31 October 2019

Diana L Wallace

4

1 reference

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31 October 2019

publication date

1 March 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12599189%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

31 October 2019

published in

1 reference

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31 October 2019

volume

117A

1 reference

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31 October 2019

issue

3

1 reference

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31 October 2019

page(s)

255-260

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12599189%20AND%20SRC:MED&resulttype=core&format=json

The exon A (C77G) mutation is a common cause of abnormal CD45 splicing in humans.

31 October 2019

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.10010

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.10010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12599189%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference