scholarly article | Q13442814 |
P356 | DOI | 10.1002/(SICI)1096-8628(19970303)69:1<102::AID-AJMG20>3.0.CO;2-S |
P698 | PubMed publication ID | 9066893 |
P2093 | author name string | Gustavson KH | |
Sørensen T | |||
Kantola I | |||
Friis ML | |||
Sillén A | |||
Wadelius C | |||
P2860 | cites work | Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants | Q35013854 |
Familial hypokalaemic periodic paralysis in Finland | Q36960694 | ||
Recent human germ-line mutation: inferences from patients with hemophilia B. | Q40514889 | ||
Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families | Q72017458 | ||
Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP) | Q72802865 | ||
Identification of a mutation in the gene causing hyperkalemic periodic paralysis | Q24314688 | ||
Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis | Q24517877 | ||
Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families | Q24673082 | ||
Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32 | Q28238033 | ||
A calcium channel mutation causing hypokalemic periodic paralysis | Q28242375 | ||
Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene | Q28242463 | ||
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis | Q28243593 | ||
A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis | Q28305953 | ||
A second-generation linkage map of the human genome | Q33192755 | ||
P433 | issue | 1 | |
P921 | main subject | founder effect | Q504568 |
hypokalemic periodic paralysis | Q622828 | ||
P304 | page(s) | 102-106 | |
P577 | publication date | 1997-03-01 | |
P1433 | published in | American Journal of Medical Genetics Part A | Q15755121 |
P1476 | title | Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families. | |
P478 | volume | 69 |
Q44283737 | Andersen syndrome, ventricular arrhythmias and channelopathy (a case report) |
Q34675378 | Disorders of potassium homeostasis. Hypokalemia and hyperkalemia |
Q52566066 | Genetic analysis of voltage-dependent calcium channels. |
Q36774708 | Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder |
Q51945810 | Interstitial 1q25.3‐q31.3 deletion in a boy with mild manifestations |
Q46408330 | Manifestation, management and molecular analysis of candidate genes in two rare cases of thyrotoxic hypokalemic periodic paralysis |
Q43736265 | Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis |
Q35054061 | Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family |
Q34015907 | Periodic paralysis |
Q40272365 | Secondary hypokalaemic paralysis |
Q34011949 | Skeletal muscle sodium current is reduced in hypokalemic periodic paralysis |
Q33510262 | The role of CACNA1S in predisposition to malignant hyperthermia |
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