Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease

Genetics in Medicine

Volumn 10, Issue 9, 2008, Pages 675-684

  Kaya, Namik ^a   Imtiaz, Faiqa ^a   Colak, Dilek ^a   Al Sayed, Moeenaldeen ^a   Al Odaib, Ali ^a   Al Zahrani, Fatma ^a   Al Mubarak, Bashayer R ^a   Al Owain, Mohammad ^a   Al Dhalaan, Hesham ^a   Chedrawi, Aziza ^a   Al Hassnan, Zuhair ^a   Coskun, Serdar ^a   Sakati, Nadia ^a   Ozand, Pinar ^a,b   Meyer, Brian F ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b Pakize Tarzi Maternity and Children's Hospital   (Turkey)

Author keywords

ACGH; Canavan disease; Genome wide gene expression; Large novel deletions; Long PCR; MLPA; MtDNA sequencing; Muscle weakness and hypotonia

Indexed keywords

APOPTOSIS; ARTICLE; CANAVAN DISEASE; CELL MOTILITY; CHILD; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; FEMALE; FIBROBLAST; GENE ACTIVITY; GENE DELETION; GENE EXPRESSION PROFILING; GENE MUTATION; GENE SEQUENCE; HUMAN; INFANT; INFLAMMATION; MALE; MITOCHONDRIAL RESPIRATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE CONTRACTION; MUSCLE DEVELOPMENT; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; POLYMERASE CHAIN REACTION; SAUDI ARABIA; CELL CULTURE; DNA MICROARRAY; GENETICS; HUMAN GENOME; NUCLEOTIDE SEQUENCE; POINT MUTATION;

CANAVAN DISEASE; CELLS, CULTURED; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION PROFILING; GENOME, HUMAN; HUMANS; INFANT; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POINT MUTATION; SAUDI ARABIA; SEQUENCE DELETION;

EID: 58249094760     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31818337a8     Document Type: Article

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