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Mots-clés associés à l'article
Mutated in human diseases
KCNQ1OT1
NPHP1
LAMA2
SLC4A1
Proteins
glucose-6-phosphate dehydrogenase
TTF-1
KCNQ1OT1
NPHP1
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emedicine
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CACNA1S
MIM.114208 1q32
Pathology
germline mutations in
hypokalemic periodic paralysis (MIM.170400)
malignant hyperthermia
susceptibility
locus
MHS5 (MIM.601887)
thyrotoxic periodic paralysis (MIM.188580)
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