Massively parallel sequencing of ataxia genes after array-based enrichment

Human Mutation

Volumn 31, Issue 4, 2010, Pages 494-499

  Hoischen, Alexander ^a   Gilissen, Christian ^a   Arts, Peer ^a   Wieskamp, Nienke ^a   Van Vliet, Walter Der ^a   Vermeer, Sascha ^a   Steehouwer, Marloes ^a   De Vries, Petra ^a   Meijer, Rowdy ^a   Seiqueros, Jorge ^b   Knoers, Nine V A M ^a   Buckley, Michael F ^a   Scheffer, Hans ^a   Veltman, Joris A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF PORTO   (Portugal)

Author keywords

Ataxia; Massively parallel sequencing; NGS; Resequencing; Sequence enrichment

Indexed keywords

ATM PROTEIN; GENE PRODUCT; PROTEIN APTX; PROTEIN SACS; PROTEIN SETX; PROTEIN SYNE1; PROTEIN TDP1; PROTIEN FXN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; ATAXIA; CLINICAL ARTICLE; CONTROLLED STUDY; DNA MICROARRAY; GENE SEQUENCE; GENOTYPE; HUMAN; POINT MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; DNA SEQUENCE; GENETICS; METHODOLOGY; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE;

ATAXIA; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; GENOTYPE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 77950439516     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21221     Document Type: Article

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