Further delineation of SLC9A3 ‐related congenital sodium diarrhea
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2000
Abstract: Congenital sodium diarrhea (CSD) is a rare enteropathy displaying both broad variability in clinical severity and genetic locus and allelic heterogeneity. Eleven CSD patients were reported so far with SLC9A3 variants that impair the function… read more here.
Keywords: sodium diarrhea; sodium; slc9a3 related; delineation slc9a3 ... See more keywords
SPINT2 (HAI‐2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI‐2 to inhibit prostasin but not matriptase
Sign Up to like & getrecommendations! Published in 2019 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddy394
Abstract: Abstract The syndromic form of congenital sodium diarrhea (SCSD) is caused by bi‐allelic mutations in SPINT2, which encodes a Kunitz‐type serine protease inhibitor (HAI‐2). We report three novel SCSD patients, two novel SPINT2 mutations and… read more here.
Keywords: inhibit prostasin; matriptase; hai; sodium diarrhea ... See more keywords