Functional Analysis of a Missense Mutation in the Serine Protease Inhibitor SPINT2 Associated with Congenital Sodium Diarrhea
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
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2. Biallelic variants of the first Kunitz domain of SPINT2 cause a non‐syndromic form of congenital diarrhea and tufting enteropathy;American Journal of Medical Genetics Part A;2023-11-13
3. Biallelic variants of the first Kunitz domain of SPINT2 cause none syndromic form of congenital diarrhea and tufting enteropathy;2023-05-17
4. Extracellular: Plasma Membrane Proteases – Serine Proteases;Encyclopedia of Cell Biology;2023
5. Clinical Conundrum: Polyhydramnios as a Marker for a Fetal Genetic Syndrome in the Canadian Old Order Mennonite Population;Journal of Obstetrics and Gynaecology Canada;2022-07
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