Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA

S Melo Gomes,J Arostegui, E Omoyinmi,A Standing, N Klein, H Lachmann, P Hawkins, P Brogan

Pediatric Rheumatology(2015)

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关键词
Sanger Sequencing, Sensorineural Hearing Loss, Anakinra, Papilledema, Whole Exome Sequencing
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