(Q28206401)

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

scientific article (publication date: June 2001)

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

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1 reference

I Dalal

1

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E Grunebaum

series ordinal

2

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A Cohen

series ordinal

3

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C M Roifman

series ordinal

4

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language of work or name

English

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publication date

June 2001

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published in

Clinical Genetics

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volume

59

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issue

6

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page(s)

430-7

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cites work

Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity

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reference URL

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590608.X

retrieved

21 January 2018

Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization

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Crossref

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590608.X

retrieved

21 January 2018

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

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Crossref

reference URL

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590608.X

retrieved

21 January 2018

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

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Crossref

reference URL

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590608.X

retrieved

21 January 2018

Partial purine nucleoside phosphorylase deficiency. Studies of lymphocyte function

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reference URL

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590608.X

retrieved

21 January 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590608.X

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21 January 2018

Point mutations at the purine nucleoside phosphorylase locus impair thymocyte differentiation in the mouse

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590608.X

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21 January 2018

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590608.X

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21 January 2018

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590608.X

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21 January 2018

The correlation of adenosine deaminase and purine nucleoside phosphorylase activities in human lymphocytes subpopulations and in various lymphoid malignancies

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590608.X

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21 January 2018

Mutations in purine nucleoside phosphorylase deficiency

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590608.X

retrieved

7 January 2021

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Genetic models of purine nucleoside phosphorylase deficiency in the mouse

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590608.X

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7 January 2021

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Expression of the human T cell receptor Vβ repertoire

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590608.X

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7 January 2021

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Purine Metabolism in Splenocytes and Thymocytes of Various Mammalian Species

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590608.X

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7 January 2021

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Comparison of purine degradative enzymes and terminal deoxynucleotidyl transferase in T cell leukaemias and in normal thymic and post-thymic T cells

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590608.X

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7 January 2021

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Purine salvage pathway enzyme activities in human T-, B-, and null lymphocyte populations

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590608.X

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Mitochondrial basis for immune deficiency. Evidence from purine nucleoside phosphorylase-deficient mice

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stated in

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reference URL

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590608.X

retrieved

7 January 2021

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Identifiers

DOI

10.1034/J.1399-0004.2001.590608.X

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PubMed publication ID

11453975

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(Q28206401)

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

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