Screening for POLG W748S and A467T mutations in ataxia patients from Spain

Movement Disorders

Volumn 27, Issue 10, 2012, Pages 1326-

  Pelayo Negro, Ana L ^a   Sánchez Quintana, Coro ^a   Rodríguez Oroz, Maria C ^b   Volpini, Victor ^c   Zeviani, Massimo ^d   Tola Arribas, Miguel A ^e   Berciano, José ^a   Infante, Jon ^a  

^a HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^b BASQUE FOUNDATION FOR SCIENCE   (Spain)

^c BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e HOSPITAL UNIVERSITARIO RÍO HORTEGA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ATAXIA; CHILD; DYSARTHRIA; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; INHERITANCE; LETTER; MAJOR CLINICAL STUDY; MALE; OPHTHALMOPLEGIA; POLG GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SENSORY NEUROPATHY; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN;

ADULT; AGE OF ONSET; AGED; ALANINE; ATAXIA; DNA-DIRECTED DNA POLYMERASE; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SERINE; SPAIN; THREONINE; TRYPTOPHAN; YOUNG ADULT;

EID: 84866289742     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25085     Document Type: Letter

References (10)

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