The 2p21 deletion syndrome: Characterization of the transcription content

Genomics

Volumn 86, Issue 2, 2005, Pages 195-211

  Parvari, Ruti ^a   Gonen, Yael ^a   Alshafee, Ismael ^a   Buriakovsky, Sophia ^a   Regev, Kfir ^a   Hershkovitz, Eli ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

2p16 deletion; 2p21 deletion; C2orf34; PPM1B; PREPL; SLC3A1; Splice variants; Transcription

Indexed keywords

MAGNESIUM; PHOSPHATASE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 2P; CHROMOSOME DELETION; CYSTINURIA; DEVELOPMENTAL DISORDER; EXON; FACE DYSMORPHIA; GENE DELETION; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE IDENTIFICATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; INFANTILE HYPOTONIA; MITOCHONDRIAL RESPIRATION; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL; RESPIRATORY CHAIN; SEIZURE SUSCEPTIBILITY; SPLICEOSOME; UNINDEXED SEQUENCE;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; CYSTINURIA; DNA; DNA PRIMERS; ELECTRON TRANSPORT; EXONS; EXPRESSED SEQUENCE TAGS; FEMALE; GENE DELETION; GENOTYPE; HOMOZYGOTE; HUMANS; MALE; MITOCHONDRIA; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; OPEN READING FRAMES; PHENOTYPE; PHOSPHOPROTEIN PHOSPHATASE; PROTEIN ISOFORMS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; TISSUE DISTRIBUTION; TRANSCRIPTION, GENETIC; VARIATION (GENETICS);

EID: 21444433685     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ygeno.2005.04.001     Document Type: Article

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