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.

scientific article published in March 1997

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. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/(SICI)1096-8628(19970303)69:1<102::AID-AJMG20>3.0.CO;2-S
P698PubMed publication ID9066893

P2093author name stringGustavson KH
Sørensen T
Kantola I
Friis ML
Sillén A
Wadelius C
P2860cites workAnalysis of human Y-chromosome-specific reiterated DNA in chromosome variantsQ35013854
Familial hypokalaemic periodic paralysis in FinlandQ36960694
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 familiesQ72017458
Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP)Q72802865
Identification of a mutation in the gene causing hyperkalemic periodic paralysisQ24314688
Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysisQ24517877
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 familiesQ24673082
Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32Q28238033
A calcium channel mutation causing hypokalemic periodic paralysisQ28242375
Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit geneQ28242463
Dihydropyridine receptor mutations cause hypokalemic periodic paralysisQ28243593
A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysisQ28305953
A second-generation linkage map of the human genomeQ33192755
P433issue1
P921main subjectfounder effectQ504568
hypokalemic periodic paralysisQ622828
P304page(s)102-106
P577publication date1997-03-01
P1433published inAmerican Journal of Medical Genetics Part AQ15755121
P1476titleIdentification 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.
P478volume69

Reverse relations

cites work (P2860)
Q44283737Andersen syndrome, ventricular arrhythmias and channelopathy (a case report)
Q34675378Disorders of potassium homeostasis. Hypokalemia and hyperkalemia
Q52566066Genetic analysis of voltage-dependent calcium channels.
Q36774708Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder
Q51945810Interstitial 1q25.3‐q31.3 deletion in a boy with mild manifestations
Q46408330Manifestation, management and molecular analysis of candidate genes in two rare cases of thyrotoxic hypokalemic periodic paralysis
Q43736265Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis
Q35054061Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family
Q34015907Periodic paralysis
Q40272365Secondary hypokalaemic paralysis
Q34011949Skeletal muscle sodium current is reduced in hypokalemic periodic paralysis
Q33510262The role of CACNA1S in predisposition to malignant hyperthermia

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