Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome

Genomics

Volumn 83, Issue 5, 2004, Pages 883-892

  Šutajová, Markéta ^a   Neukirchen, Ursula ^a   Meinecke, Peter ^b   Czeizel, Andrew E ^c   Tímár, László ^c   Sólyom, Enikö ^d   Gal, Andreas ^a   Kutsche, Kerstin ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b Altonaer Kinderkrankenhaus   (Germany)

^c OKK Csaladtervezesi Kozpont   (Hungary)

^d Borsod Abauj Zemplen Megyei A   (Hungary)

Author keywords

1q24.3; 22q13.1; Chromosomal rearrangement; Extracellular matrix; Fusion transcript; Illegitimate recombination; Mutation screening; PDGF R family

Indexed keywords

AMINO ACID; MESSENGER RNA; PLATELET DERIVED GROWTH FACTOR;

ALLELE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHROMOSOME 1Q; CHROMOSOME 22Q; CHROMOSOME NOR; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; COSTELLO SYNDROME; EXON; FEMALE; GENE DISRUPTION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC CODE; HUMAN; IMMUNOFLUORESCENCE; LYMPHOCYTE; MULTIGENE FAMILY; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEFECT; PROTEIN FAMILY; PROTEIN LOCALIZATION; REACTION ANALYSIS; RNA ISOLATION; UNINDEXED SEQUENCE; WILD TYPE;

EID: 1842815926     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ygeno.2003.10.012     Document Type: Article

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