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Search Results - VALE-SANTOS, J
Search Results - VALE-SANTOS, J
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A calcium channel mutation causing hypokalemic periodic paralysis
by
Jurkat-Rott, Karln
,
Lehmann-Horn, Frank
,
Elbaz, Alexis
,
Heine, Roland
,
Gregg, Ronald G.
,
Hogan, Kirk
,
Powers, Patricia A.
,
Laple, Pascale
,
Vale-Santos, José E.
,
Weissenbach, Jean
,
Fontaine, Bertrand
Published in
Human molecular genetics
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Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNLIA3) : genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder...
by
ELBAZ, A
,
VALE-SANTOS, J
,
PADBERG, G. W
,
ABE, K
,
FEINGOLD, N
,
GUIMARAES, J
,
WINTZEN, A. R
,
VAN DER HOEVEN, J. H
,
SAUDUBRAY, J. M
,
GRUNFELD, J. P
,
LENOIR, G
,
NIVET, H
,
JURKAT-ROTT, K
,
ECHENNE, B
,
FRANTS, R. R
,
FARDEAU, M
,
LEHMANN-HORN, F
,
FONTAINE, B
,
LAPIE, P
,
OPHOFF, R. A
,
BADY, B
,
LINKS, T. P
,
PIUSSAN, C
,
VILA, A
,
MONNIER, N
Published in
American journal of human genetics
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Mutation in DHP receptor α1 subunit (CALCLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis
by
BOERMAN, R. H
,
OPHOFF, R. A
,
FONTAINE, B
,
PADBERG, G. W
,
FRANTS, R. R
,
LINKS, T. P
,
VAN EIJK, R
,
SANDRUIJL, L. A
,
ELBAZ, A
,
VALE-SANTOS, J. E
,
WINTZEN, A. R
,
VAN DEUTEKOM, J. C
,
ISLES, D. E
Published in
Journal of medical genetics
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American Journal Of Human Genetics
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Human Molecular Genetics
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Journal Of Medical Genetics
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Biological And Medical Sciences
Medical Sciences
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Calcium Channels
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Calcium Channels - Genetics
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Dihydropyridine Receptors
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Humans
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Hypokalemic Periodic Paralysis
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Man
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Metabolic Diseases
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Mutation
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Arginine - Genetics
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Base Sequence
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Biochemistry & Molecular Biology
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Cacnl1A3 Gene
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Calcium Channels, L-Type
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