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1.
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.
Hum Mutat
; 39(9): 1273-1283, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29935101
2.
Functional Study of Novel Bartter's Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine.
Front Pharmacol
; 11: 327, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32256370
3.
[Bartter syndrome, severe rare orphan kidney disease: a step towards therapy through pharmacogenetic and epidemiological studies].
G Ital Nefrol
; 35(3)2018 May.
Artículo
en Italiano
| MEDLINE | ID: mdl-29786180
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