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Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition.

Melki, Isabelle

Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition. [electronic resource] - Pediatrics Apr 2013 - e1308-13 p. digital

Publication Type: Case Reports; Journal Article

ISSN: 1098-4275

Standard No.: 10.1542/peds.2012-2255 doi

Subjects--Topical Terms:
Genetic Markers
Hereditary Autoinflammatory Diseases--complications
Homozygote
Humans
Hyperpigmentation--etiology
Hypertrichosis--etiology
Infant
Male
Mutation, Missense
Nucleoside Transport Proteins--genetics

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