Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population

Journal of Human Genetics

Volumn 51, Issue 4, 2006, Pages 363-367

  Wieczorek, Stefan ^a   Arning, Larissa ^a   Alheite, Ingrid ^a   Epplen, Jörg T ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

ADCA; Ataxia; Mutation; Puratrophin 1; SCA4

Indexed keywords

5' UNTRANSLATED REGION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CAUCASIAN; CEREBELLAR ATAXIA; CHROMOSOME 16Q; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DEGENERATIVE DISEASE; EUROPE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; JAPAN; MAJOR CLINICAL STUDY; PURATROPHIN 1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOMATOLOGY;

ALLELES; CEREBELLAR ATAXIA; CHI-SQUARE DISTRIBUTION; CHROMOSOMES, HUMAN, PAIR 16; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SPECTRIN;

ATAXIA;

EID: 33646448422     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0372-y     Document Type: Article

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