Condition: RETINITIS PIGMENTOSA 28


rs200691042 in FAM161A gene and RETINITIS PIGMENTOSA 28 PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 26574802 2015 A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.

PMID 20705278 2010 Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.

PMID 20705279 2010 Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.

PMID 24651477 2014 Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.

PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.