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Gaffney, Patrick
One or more keywords matched the following items that are connected to Gaffney, Patrick
Item TypeName
Concept Mutation
Concept Point Mutation
Concept Mutation, Missense
Academic Article ßIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.
Academic Article The rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus.
Academic Article RBPJ mutations identified in two families affected by Adams-Oliver syndrome.
Academic Article Protein kinase cd deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.
Academic Article Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
Academic Article TALEN-mediated enhancer knockout influences TNFAIP3 gene expression and mimics a molecular phenotype associated with systemic lupus erythematosus.
Academic Article Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.
Academic Article Identification of novel coding mutation in C1qA gene in an African-American pedigree with lupus and C1q deficiency.
Academic Article Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.
Academic Article Progress towards understanding the genetic pathogenesis of systemic lupus erythematosus.
Academic Article Lupus-associated causal mutation in neutrophil cytosolic factor 2 (NCF2) brings unique insights to the structure and function of NADPH oxidase.
Academic Article Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Academic Article Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Grant Comprehensive Candidate Pathway Analysis in SLE
Grant ISOLATION OF A HUMAN SLE SUSCEPTIBILITY GENE ON CHROMOSO
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  • Mutation