Frataxin gene point mutations in Italian Friedreich ataxia patients

Neurogenetics

Volumn 8, Issue 4, 2007, Pages 289-299

  Gellera, Cinzia ^a   Castellotti, Barbara ^a   Mariotti, Caterina ^a   Mineri, Rossana ^a   Seveso, Viviana ^a   DiDonato, Stefano ^a   Taroni, Franco ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Hereditary ataxia; Mitochondria; Mutation; Trinucleotide repeat

Indexed keywords

FRATAXIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CORRELATION ANALYSIS; FEMALE; FRAMESHIFT MUTATION; FRIEDREICH ATAXIA; HETEROZYGOSITY; HUMAN; HUMAN CELL; ITALY; LYMPHOBLASTOID CELL; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; NULL ALLELE; ONSET AGE; POINT MUTATION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SEQUENCE ANALYSIS; STATISTICAL SIGNIFICANCE;

ADOLESCENT; ADULT; AGE OF ONSET; ALLELES; BASE SEQUENCE; CELL LINE; CHILD; CODON, NONSENSE; DNA PRIMERS; FEMALE; FRAMESHIFT MUTATION; FRIEDREICH ATAXIA; HETEROZYGOTE; HUMANS; IRON-BINDING PROTEINS; ITALY; MALE; MIDDLE AGED; MUTATION, MISSENSE; POINT MUTATION; RNA, MESSENGER; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 35448993553     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-007-0101-5     Document Type: Article

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