Spinocerebellar ataxia 14: Novel mutation in exon 2 of PRKCG in a German family

Movement Disorders

Volumn 22, Issue 2, 2007, Pages 265-267

  Nolte, Dagmar ^a   Landendinger, Melanie ^a   Schmitt, Eberhard ^b   Müller, Ulrich ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b Katholisches Klinikum Koblenz   (Germany)

Author keywords

PRKCG; Protein kinase C; SCA14; Spinocerebellar ataxia

Indexed keywords

CYSTEINE; GLYCINE; PROTEIN KINASE C GAMMA; VALINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EXON; FEMALE; GENE MUTATION; HUMAN; LABORATORY TEST; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION;

DNA MUTATIONAL ANALYSIS; EXONS; GERMANY; HUMANS; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION; PROTEIN KINASE C; RARE DISEASES; SIGNAL TRANSDUCTION; SPINOCEREBELLAR ATAXIAS;

EID: 33847739372     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.21269     Document Type: Article

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