Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia

Neurologia i Neurochirurgia Polska

Volumn 42, Issue 6, 2008, Pages 497-504

  Rajkiewicz, Marta ^a   Sułek Piatkowska, Anna ^a   Krysa, Wioletta ^a   Zdzienicka, Elzbieta ^a   Szirkowiec, Walentyna ^a   Zaremba, Jacek ^a  

^a INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

Author keywords

Dynamic mutations; FMR1 gene; FXTAS; Spinocerebellar ataxias

Indexed keywords

ATAXIN 1; ATAXIN 3; ATAXIN 7; DNA; FRAGILE X MENTAL RETARDATION PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GENE MUTATION; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; PENETRANCE; POLYMERASE CHAIN REACTION; SCREENING; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT;

AGED; AGED, 80 AND OVER; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOMIC INSTABILITY; HUMANS; MALE; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; POLAND; POLYMERASE CHAIN REACTION; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 64849108455     PISSN: 00283843     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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