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UnknownNovel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.

Objective

Dyschromatosis universalis hereditaria (DUH) is a rare heterogeneous pigmentary genodermatosis, which was first described in 1933. The genetic cause has recently been discovered by the discovery of mutations in ABCB6. Here we investigated a Chinese family with typical features of a...
S-EPMC3818219 | biostudies-literature
UnknownUltrahigh-energy gamma-ray emission associated with black hole-jet systems.
Black holes (BHs), one of the most intriguing objects in the universe, can manifest themselves through electromagnetic radiation initiated by the accretion flow. Some stellar-mass BHs drive relativistic jets when accreting matter from their companion stars, forming microquasars. Non-thermal emission...
S-EPMC12746838 | biostudies-literature
UnknownA saturated map of common genetic variants associated with human height.
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes1. Here, using data from a genome-wide association study of 5.4 millio...
S-EPMC9605867 | biostudies-literature
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