PJ Scambler

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OBJECTIVE Catechol O-methyltransferase (COMT) inactivates catecholamines by methylating their m-hydroxy group. Some previous studies using biochemical methods have found higher levels of COMT activity in schizophrenic patients. Recently, the genetic polymorphism that underlies variation in COMT activity, which results in the creation of a NlaIII restriction(More)
To establish whether loss of heterozygosity (LOH) for chromosome 16q in Wilms' tumours confers an adverse prognosis, DNA from 40 Wilms' tumour/normal pairs were analysed using highly polymorphic microsatellite markers along the length of 16q. Fifteen per cent of tumours showed LOH for 16q. Although the common region of allele loss spanned the 16q24-qter(More)
In recent years whole-exome sequencing has been developed , a technique by which all exons of the genome (all the protein-coding DNA) can be sequenced at once. Here we show that whole-exome sequencing, using either 35 or 50 Mb Agilent kits for exome capture, was insufficient to detect pathogenic DYNC2H1 variants in patients with Jeune asphyxiating thoracic(More)
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