A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.

Rosain, Jérémie

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency. [electronic resource] - Journal of clinical immunology 07 2018 - 617-627 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review

1573-2592

10.1007/s10875-018-0527-6 doi


Alleles
Alu Elements
Base Sequence
Chromosome Mapping
DNA Copy Number Variations
Female
Gene Expression
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Interferon-gamma
Interleukin-12 Receptor beta 1 Subunit--deficiency
Male
Mutation
Mycobacterium Infections--diagnosis
Pedigree
Phenotype