Affiliation: St George's Hospital Medical School
- Evidence from a Ghanaian population of known African descent to support the proposition that hemochromatosis is a Caucasian disorderS Jeffery
Medical Genetics Unit, St George s Medical School, London, UK
Genet Test 3:375-7. 1999..A possible heterozygote advantage for the mutation is discussed...
- Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutationsCarolyn Sholto-Douglas-Vernon
Medical Genetics Unit, Department of Clinical Developmental Sciences, St George s Medical School, Cranmer Terrace, Tooting, London, SW17 ORE, UK
Hum Genet 117:238-42. 2005..Sixteen previously unpublished mutations are reported, plus an estimate of the frequency of new mutations in this disorder...
- Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)G McKoy
Department of Cardiological Sciences, St George s Hospital Medical School, London, UK
Lancet 355:2119-24. 2000..This protein is a key component of desmosomes and adherens junctions, and is important for the tight adhesion of many cell types, including those in the heart and skin...