Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency
Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency
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Publisher
Tokyo: Springer Japan
Journal title
Language
English
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Publisher
Tokyo: Springer Japan
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Scope and Contents
Contents
Mutation in the gene encoding tRNA nucleotidyl transferase, CCA-adding 1 (TRNT1), an enzyme essential for the synthesis of the 3′-terminal CCA sequence in tRNA molecules, results in a disorder that features sideroblastic anemia, B-cell immunodeficiency, periodic fever, and developmental delay. Mutations in
TRNT1
are also linked to phenotypes...
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Full title
Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency
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TN_cdi_proquest_journals_2179176683
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2179176683
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ISSN
0925-5710
E-ISSN
1865-3774
DOI
10.1007/s12185-019-02614-0
