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Dehydrated hereditary stomatocytosis

Disease ID:1181
Name:Dehydrated hereditary stomatocytosis
Associated with:1 target
Database Links
OMIM: 185000
Orphanet: ORPHA3202


Mutations:  KCa3.1 is associated with 1 mutation. Click here for details


No ligand related data available for Dehydrated hereditary stomatocytosis


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1. Andolfo I, Russo R, Manna F, Shmukler BE, Gambale A, Vitiello G, De Rosa G, Brugnara C, Alper SL, Snyder LM et al.. (2015) Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis). Am J Hematol, 90 (10): 921-6. [PMID:26178367]

2. Glogowska E, Lezon-Geyda K, Maksimova Y, Schulz VP, Gallagher PG. (2015) Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis. Blood, 126 (11): 1281-4. [PMID:26198474]

3. Rapetti-Mauss R, Lacoste C, Picard V, Guitton C, Lombard E, Loosveld M, Nivaggioni V, Dasilva N, Salgado D, Desvignes JP et al.. (2015) A mutation in the Gardos channel is associated with hereditary xerocytosis. Blood, 126 (11): 1273-80. [PMID:26148990]