Human BCL10 Deficiency due to Homozygosity for a Rare Allele
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-020-00760-3
Abstract: In 2014, a child with broad combined immunodeficiency (CID) who was homozygous for a private BCL10 allele was reported to have complete inherited human BCL10 deficiency. In the present study, we report a new BCL10… read more here.
Keywords: rare allele; human bcl10; bcl10; bcl10 deficiency ... See more keywords
Vitamin A deficiency due to bi-allelic mutation of RBP4: There’s more to it than meets the eye
Sign Up to like & getrecommendations! Published in 2017 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2016.1227453
Abstract: ABSTRACT Vitamin A deficiency is the leading cause of preventable blindness in children worldwide and results in a well-recognized ocular phenotype. Herein we describe a patient presenting to the eye clinic with a retinal dystrophy… read more here.
Keywords: due allelic; allelic mutation; deficiency; eye ... See more keywords