-transparent.png){kind=logo}
A large family with three children affected with the autosomal recessive disease of Cerebrotendinous Xanthomatosis (CTX) was studied for class I (HLA-A,B,C) and class II antigens (HLA-DR,D,SB), properdin factor B and glyoxalase. The extensive typing revealed an informative cross-over between HLA-B and Bf, indicating that Bf is located centromeric to the HLA-B locus and segregated in this family with HLA-D/DR. The parents in this family were first cousins and their parents were also first cousins. Three of their four haplotypes share B14, BfS, DR1, Dx and SB4 and may be identical by descent. The three affected children carried among them all four parental haplotypes, indicating that close linkage of the CTX locus to HLA is unlikely.
C Brautbar, and
O Yehuda, and
S Eisenberg, and
N Cohen, and
A Amar, and
R Sharon, and
K Fried, and
M Aghasi, and
T Cohen
December 1978,
Revue francaise de transfusion et immuno-hematologie,
C Brautbar, and
O Yehuda, and
S Eisenberg, and
N Cohen, and
A Amar, and
R Sharon, and
K Fried, and
M Aghasi, and
T Cohen
January 1980,
Human genetics,
C Brautbar, and
O Yehuda, and
S Eisenberg, and
N Cohen, and
A Amar, and
R Sharon, and
K Fried, and
M Aghasi, and
T Cohen
November 1978,
Human genetics,
C Brautbar, and
O Yehuda, and
S Eisenberg, and
N Cohen, and
A Amar, and
R Sharon, and
K Fried, and
M Aghasi, and
T Cohen
November 1988,
Harefuah,
C Brautbar, and
O Yehuda, and
S Eisenberg, and
N Cohen, and
A Amar, and
R Sharon, and
K Fried, and
M Aghasi, and
T Cohen
August 1977,
Nature,
C Brautbar, and
O Yehuda, and
S Eisenberg, and
N Cohen, and
A Amar, and
R Sharon, and
K Fried, and
M Aghasi, and
T Cohen
September 1981,
Tissue antigens,
C Brautbar, and
O Yehuda, and
S Eisenberg, and
N Cohen, and
A Amar, and
R Sharon, and
K Fried, and
M Aghasi, and
T Cohen
October 1979,
Human genetics,
C Brautbar, and
O Yehuda, and
S Eisenberg, and
N Cohen, and
A Amar, and
R Sharon, and
K Fried, and
M Aghasi, and
T Cohen
May 1976,
Tissue antigens,
C Brautbar, and
O Yehuda, and
S Eisenberg, and
N Cohen, and
A Amar, and
R Sharon, and
K Fried, and
M Aghasi, and
T Cohen
January 1996,
QJM : monthly journal of the Association of Physicians,
C Brautbar, and
O Yehuda, and
S Eisenberg, and
N Cohen, and
A Amar, and
R Sharon, and
K Fried, and
M Aghasi, and
T Cohen
December 1969,
Archives of neurology,
