SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.

Schossig, Anna

SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome. [electronic resource] - Journal of medical genetics 01 2017 - 54-62 p. digital

Publication Type: Clinical Trial; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1468-6244

10.1136/jmedgenet-2016-103988 doi


Alleles
Amelogenesis Imperfecta--genetics
Brain Diseases--genetics
Cohort Studies
Dementia--genetics
Epilepsy--genetics
Exome--genetics
Female
Genetic Linkage--genetics
Genetic Predisposition to Disease--genetics
Humans
Male
Membrane Proteins--genetics
Mutation--genetics
Nuclear Proteins--genetics
Pedigree
Symporters--genetics
Tooth