Associated Papers
Comprehensive survey of disease-causing missense mutations of the cholesterol synthesis enzyme NSDHL: Low temperature and a chemical chaperone rescue low protein expression of select mutants.
Fenton NM et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2025
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
Martínez F et al.
Journal of Medical Genetics, 2017
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
Preiksaitiene E et al.
American Journal of Medical Genetics. Part A, 2015
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