Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2 [5]

Journal of Medical Genetics

Volumn 38, Issue 4, 2001, Pages 249-253

  Scoggan, K A ^a   Chandra, T ^a   Nelson, R ^a   Hahn, A F ^a   Bulman, D E ^a  

^a OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL;

ADULT; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CEREBELLAR ATAXIA; DISEASE SEVERITY; EXON; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; LETTER; NEUROTRANSMITTER RELEASE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; BASE SEQUENCE; CALCIUM CHANNELS; CEREBELLAR ATAXIA; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

ATAXIA;

EID: 0035061178     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

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