Associated Papers
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
A novel SCNN1G mutation in a PHA I infant patient correlates with nephropathy.
Yin LP et al.
Biochemical and Biophysical Research Communications, 2019
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
Azad AK et al.
Human Mutation, 2009
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