Immunodeficiency mutation databases (IDbases). (Q36605099)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17004234%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

review article

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title

Immunodeficiency mutation databases (IDbases) (English)

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19 December 2019

3

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19 December 2019

author name string

Hilkka Piirilä

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17004234%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Jouni Väliaho

series ordinal

2

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19 December 2019

publication date

1 December 2006

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19 December 2019

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19 December 2019

volume

27

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19 December 2019

issue

12

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19 December 2019

page(s)

1200-1208

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Primary Immunodeficiencies: Genotype-Phenotype Correlations

19 December 2019

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Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease

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Autosomal-dominant primary immunodeficiencies

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Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling.

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A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia.

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Primary immunodeficiency diseases: an update

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Pleckstrin Homology Domains of Tec Family Protein Kinases

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Sequence specificity in CpG mutation hotspots

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7 January 2021

KinMutBase: a registry of disease-causing mutations in protein kinase domains

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7 January 2021

The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein

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7 January 2021

MUTbase: maintenance and analysis of distributed mutation databases.

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Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain

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