Access the full text.
Sign up today, get DeepDyve free for 14 days.
(1959)
A study of heterozygosity in Wilson’s disease
K. Keele (1960)
THE PROBLEM OF PAINBritish Medical Journal, 1
S. Wilson (1912)
PROGRESSIVE LENTICULAR DEGENERATION : A FAMILIAL NERVOUS DISEASE ASSOCIATED WITH CIRRHOSIS OF THE LIVER.The Lancet, 179
A. Bearn (1959)
Genetic aspects of Wilson's disease.Proceedings of the Royal Society of Medicine, 52 1
Russ Russ, Raymunt Raymunt (1956)
Influence of estrogens in total serum copper and ceruloplasminProc. Soc. Exp. Biol., N.Y., 92
(1957)
Etude de la c6ruloplasmine du serum humain par 1'6lectrophorkse en g6lose et l'analyse immuno-6lectrophor6tique
(1921)
La de'g4nne'rescence hepdolenticulaire
G. Cartwright, R. Hodges, C. Gubler, J. Mahoney, K. Daum, M. Wintrobe, W. Bean (1954)
Studies on copper metabolism. XIII. Hepatolenticular degeneration.The Journal of clinical investigation, 33 11
Walshe Walshe (1959)
Current views on the Pathogenesis and treatment of Wilson's diseaseArch. Intern. Med., 103
A. Bearn (1956)
Wilson's disease; hepatolenticular degeneration.Postgraduate medical journal, 32 372
H. Bickel, F. Neale, G. Hall (1957)
A clinical and biochemical study of hepatolenticular degeneration (Wilson's disease).The Quarterly journal of medicine, 26 104
F. Neale, M. Fischer-Williams (1958)
COPPER METABOLISM IN NORMAL ADULTS AND IN CLINICALLY NORMAL RELATIVES OF PATIENTS WITH WILSON'S DISEASEJournal of Clinical Pathology, 11
A. Bearn, H. Kunkel (1954)
Abnormalities of copper metabolism in Wilson's disease and their relationship to the aminoaciduria.The Journal of clinical investigation, 33 3
I. Sternlier, A. Morell, C. Bauer, B. Combes, S. Bobes-Sternberg, I. Schein-Berg (1961)
DETECTION OF THE HETEROZYGOUS CARRIER OF THE WILSON'S DISEASE GENE.The Journal of clinical investigation, 40 4
E. Russ, J. Raymunt (1956)
Influence of Estrogens on Total Serum Copper and Caeruloplasmin.∗Proceedings of the Society for Experimental Biology and Medicine, 92
(1958)
ElectrophorAsedes6rums humains 8
(1957)
Etude de la c6ruloplasmine du serum humain par 1’6lectrophorkse en g6lose et l’analyse
(1957)
Etude de la c 6 ruloplasmine du serum humain par 1 ’ 6 lectrophorkse en g 6 lose et l ’ analyse immuno - 6 lectrophor 6 tique . Microd 6 tection colorim 6 trique du cuivre li 6 aux prot 6 ines
Bearn Bearn (1956)
Wilson's disease hepatolenticular degenerationPost Orad. Med. J., 32
Bearn Bearn (1957)
Wilson's disease. An inborn error of metabolism with multiple manifestationsAmer. J. Med. Sci., 22
A. Bearn (1953)
Genetic and biochemical aspects of Wilson's disease.The American journal of medicine, 15 4
(1957)
A clinical and biochemical study of hepatolenticular degeneration (Wilson's disease). Quart
Uriel Uriel, Gotz Gotz, Grabar Grabar (1957)
Etude de la céruloplasmine du sérum humain par ľelectrophorése en gélose et ľanalyse irrimuno‐électrophorétique. Microdétection colorimétrique du cuivre lié aux protéinesSchweiz. med. Wschr., 14
De Grouchy De Grouchy (1958)
Electrophorèse de sérums humains à travers gel ďamidon etidentification de la céruloplasmine chez des sujets normaux ainsi que chez des sujets homozygote et hétérozygote pour le gène de la maladie de WilsonRev. franc, études clin. biol., 111
A. Bearn (1957)
Wilson's disease; an inborn error of metabolism with multiple manifestations.The American journal of medicine, 22 5
J. Walshe (1959)
Current views on the pathogenesis and treatment of Wilson's disease.A.M.A. archives of internal medicine, 103 1
L. Broman (1958)
Separation and Characterization of Two Coeruloplasmins from Human SerumNature, 182
Bearn Bearn (1953)
Genetic and biochemical aspects of Wilson's diseaseAmer. J. Med. Sci., 15
(1958)
Copper metabolism in normal adults and in clinically normal Russ, E
Summary A genetical analysis has been carried out on thirty‐two patients with Wilson's disease from thirty families obtained largely from the New York area. Fourteen of the thirty‐two patients (43.75 %) were of eastern European origin (Jews) and eight (25.0 %) came from the Mediterranean (non‐Jews); both groups came from geographically circumscribed areas. A number of differences were observed between the patients who were Jews from eastern Europe and the Mediterranean and other groups. The Jews, on an average, tended to have more consanguinity, a later onset of the disease and, consequently, a relatively increased fertility. Clinically there was no predilection for either group to have a particular type of the disease. The Jewish group of patients had an increased variance in the serum copper and ceruloplasmin levels relative to the Mediterranean group. The patients with a normal level of ceruloplasmin came from the eastern Jewish group. Not all these differences were significant statistically and collection of more cases will be needed before firm conclusions can be drawn. The possibility that the eastern European Jewish population may possess a modifying gene and the possibility that more than one allele is present at the Wilson's disease locus is discussed. It should be emphasized that the evidence available is insufficient to state that ceruloplasmin is the primary gene product in Wilson's disease. If further evidence lends support to this view it will be necessary to perform structural studies on ceruloplasmin obtained from patients with Wilson's disease of various geographic origins in order to investigate the possibility of chemical allelism. This manuscript was written during the tenure of the position of Honorary Research Assistant at the Galton Laboratory, London. I am very much indebted to Prof. L. S. Penrose for his constant advice and for his critical reading of the manuscript.
Annals of Human Genetics – Wiley
Published: Sep 1, 1959
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.