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  1. No Access

    Article

    Comparison of total cellular DNA, mRNA, and rRNA levels between normals and down syndrome patients

    Two recent studies have suggested that the absolute cellular RNA and/or DNA levels in Down syndrome (DS) may be unusual compared to normals and may be linked to phenotypic expression (Pashet al., 1990; Dahlet al.

    C. I. McQuillan, K. H. Choo in Journal of Inherited Metabolic Disease (1992)

  2. No Access

    Article

    The importance of further cytogenetic and molecular investigation of acrocentric variants: justification by presentation of a case [t(8;14)(q24;p11)]

    On routine chromosome analysis a moderately retarded 18-year old man was found to have an unusual short arm on one chromosome 14. With GTL-banding this chromosome showed an enlarged short arm with no evident s...

    L. Hills, E. Earle, M. Wilson, V. Petrovic, L. E. Voullaire, M. Leversha… in Human Genetics (1991)

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    Article

    Centromeric alpha satellite DNA amplification and translocation in an unusually large chromosome 14p+ variant

    We report cytogenetic and molecular studies on a family that carries, in the father, an unusually large chromosome 14p+ variant [WSi-var(14)(p+)] and, in one of his children, a translocation [DSi-der(14)] invo...

    S. Dale, E. Earle, L. Voullaire, J. Rogers, K. H. Choo in Human Genetics (1989)

  4. No Access

    Article

    Amplification of satellite III DNA in an unusually large chromosome 14p+ variant

    A phenotypically normal male (WSm) was found to have an unusually large short arm of chromosome 14. Increase in the size of this variant chromosome [Wsm-var(14)] was estimated to be approximately 30% that of a...

    E. Earle, S. Dale, K. H. Choo in Human Genetics (1989)

  5. No Access

    Article

    Gene deletions in patients with haemophilia B and anti-factor IX antibodies

    Christmas disease, or haemophilia B, is an inherited X-linked haemorrhagic disease which at present occurs in 798 known cases in the United Kingdom, corresponding to a frequency of about 1 in 30,000 males. Pat...

    F. Giannelli, K. H. Choo, D. J. G. Rees, Y. Boyd, C. R. Rizza, G. G. Brownlee in Nature (1983)

  6. No Access

    Article

    Molecular cloning of the gene for human anti-haemophilic factor IX

    A functional deficiency of factor IX, one of the coagulation factors involved in blood clotting1, leads to the bleeding disorder known as Christmas disease2, or haemophilia B. Both this disease and haemophilia A ...

    K. H. Choo, K. G. Gould, D. J. G. Rees, G. G. Brownlee in Nature (1982)

  7. No Access

    Article

    Two-dimensional polyacrylamide gel analysis of fibroblast polypeptides: Discussion of its Relevance for inherited diseases

    Two-dimensional polyacrylamide gel electrophoresis has been used to resolve several hundred polypeptides from six different human fibroblast cell lines. Two of the cell lines were from normals while the other ...

    K. H. Choo, R. G. H. Cotton, D. M. Danks… in Journal of Inherited Metabolic Disease (1981)

  8. No Access

    Article

    Genetics of the mammalian phenylalanine hydroxylase system. IV. Evidence of phenylalanine hydroxylase in a cultured human hepatoma cell line

    We report here the identification of a cultured human hepatoma cell line which possesses an active phenylalanine hydroxylase system. Phenylalanine hydroxylation was established by growth of cells in a tyrosine...

    K. H. Choo, R. G. H. Cotton, I. G. Jennings, K. Fowler, D. M. Danks in Biochemical Genetics (1980)

  9. No Access

    Article

    Observations indicating the nature of the mutation in phenylketonuria

    Rabbit antiserum was prepared against purified normal human liver phenylalanine hydroxylase. This was used to test for cross-reacting material in crude extracts of livers from patients with classical phenylket...

    K. H. Choo, R. G. H. Cotton, I. G. Jennings… in Journal of Inherited Metabolic Disease (1979)

  10. No Access

    Article

    Genetics of the mammalian phenylalanine hydroxylase system. II. Immunological and two-dimensional gel electrophoretic studies of phenylalanine hydroxylase in cultured normal and mutant rat hepatoma cells

    We have examined 11 previously described cultured rat hepatoma mutants with absent or reduced phenylalanine hydroxylase activity (Choo and Cotton, 1977). Immunological and electrophoretic methods failed to det...

    K. H. Choo, R. G. H. Cotton in Biochemical Genetics (1979)

  11. No Access

    Article

    Genetics of the mammalian phenylalanine hydroxylase system: I. Isolation of phenylalanine hydroxylase-deficient tyrosine auxotrophs from rat hepatoma cells

    Cultured rat hepatoma cells, H4-II-E-C3, are known to possess a phenylalanine hydroxylating system which is sufficient to enable them to grow in tyrosinedepleted medium. Using standard procedures of auxotroph enr...

    K. H. Choo, R. G. H. Cotton in Somatic Cell Genetics (1977)