G Stevens

Summary

Affiliation: University of the Witwatersrand
Country: South Africa

Publications

  1. ncbi Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation
    G Stevens
    Department of Human Genetics, School of Pathology, The South African Institute for Medical Research and University of the Witwatersrand, Johannesburg
    Hum Genet 99:523-7. 1997
  2. ncbi Different molecular basis for spinal muscular atrophy in South African black patients
    G Stevens
    Department of Human Genetics, School of Pathology, The South African Institute for Medical Research and The University of the Witwatersrand, Johannesburg, South Africa
    Am J Med Genet 86:420-6. 1999
  3. ncbi Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa
    R Kerr
    Department of Human Genetics, The South African Institute for Medical Research and University of the Witwatersrand, Johannesburg, South Africa
    Hum Mutat 15:166-72. 2000
  4. pmc The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12
    M Ramsay
    Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg
    Am J Hum Genet 51:879-84. 1992

Collaborators

Detail Information

Publications4

  1. ncbi Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation
    G Stevens
    Department of Human Genetics, School of Pathology, The South African Institute for Medical Research and University of the Witwatersrand, Johannesburg
    Hum Genet 99:523-7. 1997
    ..The unusually high frequency of OCA2 mutations, in particular the 2.7-kb deletion, suggests some selective agent or genetic drift...
  2. ncbi Different molecular basis for spinal muscular atrophy in South African black patients
    G Stevens
    Department of Human Genetics, School of Pathology, The South African Institute for Medical Research and The University of the Witwatersrand, Johannesburg, South Africa
    Am J Med Genet 86:420-6. 1999
    ..It is proposed that the differences in the SMA phenotype observed in black patients may in part be explained by a different molecular basis...
  3. ncbi Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa
    R Kerr
    Department of Human Genetics, The South African Institute for Medical Research and University of the Witwatersrand, Johannesburg, South Africa
    Hum Mutat 15:166-72. 2000
    ..Relatively few mutations, all with low frequency, were identified in the non-2.7 kb deletion OCA genes. We propose that other mutations may lie either within intronic sequence or within the promoter region of the gene...
  4. pmc The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12
    M Ramsay
    Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg
    Am J Hum Genet 51:879-84. 1992
    ..2-q12. The pink-eyed dilute locus, p, on mouse chromosome 7, maps close to a region of homology on human chromosome 15q, and we postulate that the ty-pos OCA and p loci are homologous...