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(1961)
Stocks for detecting linkage in the m o w and the theory
C. Smith (1959)
Some comments on the statistical methods used in linkage investigations.American journal of human genetics, 11
G. Spaeth, P. Frost (1965)
Fabry's disease. Its ocular manifestations.Archives of ophthalmology, 74 6
Wise Wise, Wallace Wallace, Jellineek Jellineek (1962)
Angiokeratoma corporis diffusumQuart. J. Med., 31
J. Renwick, J. Schulze (1964)
AN ANALYSIS OF SOME DATA ON THE LINKAGE BETWEEN XG AND COLORBLINDNESS IN MAN.American journal of human genetics, 16
Corporis Diffusum, A. Johnston, S. Weller, B. Warland (1968)
Angiokeratoma corporis diffusum. Some clinical aspects.Archives of Disease in Childhood, 43
Johnston Johnston, Wabland Wabland, Weller Weller (1960)
Genetic aspects of mgiokeratoma corporis diffusumAnn. Hum. Genet., 30
C. Jackson, W. Symon, J. Mann (1964)
X CHROMOSOME MAPPING OF GENES FOR RED-GREEN COLORBLINDNESS AND XG.American journal of human genetics, 16
R. Brady, A. Gal, R. Bradley, E. Mårtensson, A. Warshaw, L. Laster (1967)
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.The New England journal of medicine, 276 21
John Opitz, F. Stiles, D. Wise, R. Race, R. Sanger, G. Gemmingen, R. Kierland, E. Cross, W. Groot (1965)
The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus.American journal of human genetics, 17 4
(1960)
Genetic aspects of mgiokeratoma corporis
(1961)
A computer program for the processing of linkage data from large pedigrees
J. Price (1955)
ANGIOKERATOMA CORPORIS DIFFUSUM.British Journal of Dermatology, 67
Johnston Johnston, Weller Weller, Warland Warland (1968)
hgiokeratoma corporis diffusum. Some clinical aspectsArch. Dh. Childh., 43
N. Morton (1955)
Sequential tests for the detection of linkage.American journal of human genetics, 7 3
Carter Carter, Falconer Falconer (1961)
Stocks for detecting linkage in the mow and the theory of their designJ. Genet., 50
Brady Brady, Gal Gal, Bradley Bradley, Martensson Martensson, Warshaw Warshaw, Laster Laster (1967)
Enzymatic defect in Fabry's diseaseNew Eng. J. Med., 276
BY A. W. JOHNSTON,* P. FROST?, G. L. SPAETHS, AND J. H. RENWICKS Angiokeratoma corporis m u s u m (AKCD; Fabry's disease) has recently attracted attention since the recognition that it is a generalized disease with excessive storage of a normal glycolipid, n ceramide trihexoside, detected more particularly in the walls of blood vessels and i the kidneys. The precise enzyme which is deficient may be ceramide trihexosidase. Its virtual absence has been demonstrated in small intestinal mucosa from mares with the disease, with some reduction in the concentration of this enzyme in one carrier female (Brady et al. 1967). The affected men complain of pains in the limbs and show a characteristic rash with dilated small blood vessels and some hyperkeratosis, distributed mainly over the spine, hips and genitalia. The fidl clinical features have been reviewed by Wise, Wallace & Jellinek (1962) and by Johnston, Weller & Warland (1968). LINKAGE A N f i Y S E S Pedigree analysis has favoured an X-borne allele, though some of the carrier females show features of the disease, particularly the corneal dystrophy. Opitz et al. (1965) suggested that the Xg and angiokeratoma, AKCD, loci might be within measurable
Annals of Human Genetics – Wiley
Published: May 1, 1969
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