Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant.
Sign Up to like & getrecommendations! Published in 2018 at "Neurologia i neurochirurgia polska"
DOI: 10.1016/j.pjnns.2018.03.007
Abstract: AIM OF THE STUDY To describe a family with primary familial brain calcification (PFBC) due to SLC20A2 variant showing possible genetic anticipation. MATERIALS AND METHODS We conducted historical, genealogical, clinical, and radiologic studies of a… read more here.
Keywords: primary familial; brain calcification; family; family primary ... See more keywords
Structure Determination and Characterization of a Family of Primary Alcohol Solvates.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of pharmaceutical sciences"
DOI: 10.1016/j.xphs.2018.01.020
Abstract: We report the preparation and structural characterization of a family of primary alcohol solvates of a small-molecule hydrochloride salt. The structures of the solvates are probed by powder and single crystal X-ray diffraction, and the… read more here.
Keywords: primary alcohol; family primary; characterization family; alcohol solvates ... See more keywords