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Immunodeficiency in Bloom’s Syndrome

Immunodeficiency in Bloom’s Syndrome

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_swepub_ki_se_492899

Immunodeficiency in Bloom’s Syndrome

About this item

Full title

Immunodeficiency in Bloom’s Syndrome

Publisher

New York: Springer US

Journal title

Journal of clinical immunology, 2018-01, Vol.38 (1), p.35-44

Language

English

Formats

Publication information

Publisher

New York: Springer US

More information

Scope and Contents

Contents

Bloom’s syndrome (BS) is an autosomal recessive disease, caused by mutations in the
BLM
gene. This gene codes for BLM protein, which is a helicase involved in DNA repair. DNA repair is especially important for the development and maturation of the T and B cells. Since BLM is involved in DNA repair, we aimed to study if BLM deficiency affects...

Alternative Titles

Full title

Immunodeficiency in Bloom’s Syndrome

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_swepub_primary_oai_swepub_ki_se_492899

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_swepub_ki_se_492899

Other Identifiers

ISSN

0271-9142

E-ISSN

1573-2592

DOI

10.1007/s10875-017-0454-y

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