Two novel ETFDH mutations in a patient with lipid storage myopathy
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DOI: 10.1097/cm9.0000000000000310
Abstract: Supplemental Digital Content is available in the text read more here.
Keywords: two novel; mutations patient; patient lipid; novel etfdh ... See more keywords
Analysis of PDE6G mutations in a patient with retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2024 at "BMC Ophthalmology"
DOI: 10.1186/s12886-024-03623-2
Abstract: Mutations in PDE6A and PDE6B are known to cause autosomal recessive RP in humans, On the other hand, mutations in PDE6G are rare but can lead to severe early-onset RP. An 8-year-old Chinese boy was… read more here.
Keywords: pde6g mutations; analysis; pde6g; analysis pde6g ... See more keywords