Now showing items 1-4 of 4
Genetic Diagnosis By Whole Exome Capture And Massively Parallel Dna Sequencing
(Natl Acad Sciences, 2009)
Protein coding genes constitute only approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore, efficient strategies for selectively sequencing complete ...
Biallelic Hypomorphic Mutations In A Linear Deubiquitinase Define Otulipenia, An Early-Onset Autoinflammatory Disease
(Natl Acad Sciences, 2016)
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by loss-of-function mutations in OTULIN (FAM105B), encoding a ...
Hla-Drb1*11 And Variants Of The Mhc Class Ii Locus Are Strong Risk Factors For Systemic Juvenile Idiopathic Arthritis
(Natl Acad Sciences, 2015)
Systemic juvenile idiopathic arthritis (sJIA) is an often severe, potentially life-threatening childhood inflammatory disease, the pathophysiology of which is poorly understood. To determine whether genetic variation within ...
Mutations In The Chloride-Bicarbonate Exchanger Gene Ae1 Cause Autosomal Dominant But Not Autosomal Recessive Distal Renal Tubular Acidosis
(Natl Acad Sciences, 1998)
Primary distal renal tubular acidosis (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. Kindreds showing either ...