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Gene dosage studies yielded results consistent with assignment of the locus for nucleoside phosphorylase to band 14q13. The red blood cells from a patient with the karyotype 47,XX,+der(14),t(8;14)(8qter leads to 8q24::14q21 leads to 14pter)pat had enzyme activity 50% higher than red cells from 47 normal controls, two trisomies involving chromosomes other than 14, and five balanced translocations involving chromosome 14. On the other hand, the red cells of a case with a karyotype 45,XX,-14,-22+der(22),t(14;22)(14qter leads to 14q11 or 14q12::22p11 leads to 22qter)mat and a case with a a karyotype 47,XX,+der(14),t(14;16)(14pter leads to 14q11::16q24 leads to 16qter)mat had normal activity
M Frecker, and
L Dallaire, and
S R Young, and
G C Chen, and
N E Simpson
September 1979,
Human genetics,
M Frecker, and
L Dallaire, and
S R Young, and
G C Chen, and
N E Simpson
January 1980,
Annales de genetique,
M Frecker, and
L Dallaire, and
S R Young, and
G C Chen, and
N E Simpson
April 1977,
Biochemical genetics,
M Frecker, and
L Dallaire, and
S R Young, and
G C Chen, and
N E Simpson
January 1978,
Cytogenetics and cell genetics,
M Frecker, and
L Dallaire, and
S R Young, and
G C Chen, and
N E Simpson
January 1986,
Genetique, selection, evolution,
M Frecker, and
L Dallaire, and
S R Young, and
G C Chen, and
N E Simpson
January 1976,
Cytogenetics and cell genetics,
M Frecker, and
L Dallaire, and
S R Young, and
G C Chen, and
N E Simpson
January 1976,
Birth defects original article series,
M Frecker, and
L Dallaire, and
S R Young, and
G C Chen, and
N E Simpson
July 1981,
Annals of human genetics,
M Frecker, and
L Dallaire, and
S R Young, and
G C Chen, and
N E Simpson
April 1985,
Biochemical genetics,
M Frecker, and
L Dallaire, and
S R Young, and
G C Chen, and
N E Simpson
November 1976,
Science (New York, N.Y.),
