TY  - GEN
AU  - Holt-Danborg,Lasse
AU  - Vodopiutz,Julia
AU  - Nonboe,Annika W
AU  - De Laffolie,Jan
AU  - Skovbjerg,Signe
AU  - Wolters,Victorien M
AU  - Müller,Thomas
AU  - Hetzer,Benjamin
AU  - Querfurt,Alexander
AU  - Zimmer,Klaus-Peter
AU  - Jensen,Jan K
AU  - Entenmann,Andreas
AU  - Heinz-Erian,Peter
AU  - Vogel,Lotte K
AU  - Janecke,Andreas R
TI  - SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase
SN  - 1460-2083
PY  - 2020///0311
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adolescent
KW  - Amino Acid Sequence
KW  - Child
KW  - Child, Preschool
KW  - Diarrhea
KW  - congenital
KW  - Disease Susceptibility
KW  - Female
KW  - Gene Expression Regulation
KW  - Genetic Association Studies
KW  - Humans
KW  - Infant
KW  - Male
KW  - Membrane Glycoproteins
KW  - chemistry
KW  - Metabolism, Inborn Errors
KW  - Models, Biological
KW  - Models, Molecular
KW  - Mutation, Missense
KW  - Phenotype
KW  - Serine Endopeptidases
KW  - metabolism
KW  - Structure-Activity Relationship
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/ddy394
ER  -