(Q45167727)

10 December 2017

title

Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency (English)

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purine nucleoside phosphorylase deficiency

10 December 2017

main subject

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author name string

Eyal Grunebaum

series ordinal

1

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10 December 2017

Junyang Zhang

series ordinal

2

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10 December 2017

Chaim M Roifman

series ordinal

3

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10 December 2017

publication date

1 October 2004

1 reference

Nucleosides, Nucleotides & Nucleic Acids

10 December 2017

published in

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10 December 2017

volume

23

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10 December 2017

issue

8-9

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10 December 2017

page(s)

1411-1415

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Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient

10 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1081%2FNCN-200027647

Purine nucleoside phosphorylase. 1. Structure-function studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FNCN-200027647

Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FNCN-200027647

Purine nucleoside phosphorylase deficiency: a new case report and identification of two novel mutations (Gly156A1a and Val217Ile), only one of which (Gly156A1a) is deleterious

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FNCN-200027647

Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FNCN-200027647

4 Primary immunodeficiency mutation databases

21 January 2018

1 reference

https://api.crossref.org/works/10.1081%2FNCN-200027647

21 January 2018

Identifiers

DOI

10.1081/NCN-200027647

1 reference

10 December 2017

1 reference