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Volumn 68, Issue 3, 2001, Pages 759-764

Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2

(16) Guida, Serena a Trettel, Flavia a Pagnutti, Stefano d Mantuano, Elide b Tottene, Angelita d Veneziano, Liana b Fellin, Tommaso d Spadaro, Maria c Stauderman, Kenneth A e Williams, Mark E e Volsen, Stephen f Ophoff, Roel A g Frants, Rune R h Jodice, Carla a Frontali, Marina b Pietrobon, Daniela d

a UNIVERSITY OF ROME TOR VERGATA (Italy)

b CNR (Italy)

c SAPIENZA UNIVERSITY OF ROME (Italy)

d UNIVERSITY OF PADOVA (Italy)

e SIBIA Corp (United States)

f ELI LILLY AND COMPANY (United States)

g UNIVERSITY OF CALIFORNIA (United States)

h LEIDEN UNIVERSITY MEDICAL CENTER (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CALCIUM CHANNEL; CALCIUM CHANNEL P TYPE; CALCIUM CHANNEL Q TYPE; PHENYLALANINE; SERINE;

ARTICLE; CELL STRAIN; CODON; EXON; GENOTYPE; HEREDITARY ATAXIA; HUMAN; MIGRAINE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATCH CLAMP; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SPINOCEREBELLAR DEGENERATION;

ATAXIA;

EID: 0035089729 PISSN: 00029297 EISSN: None Source Type: Journal
DOI: 10.1086/318804 Document Type: Article

Times cited : (139)

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