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Human Mutation
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January 1, 1994
Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene
K H Astrin, R J Desnick
Archives of Biochemistry and Biophysics
|
October 1, 1976
Mutants of purine metabolism in cultured mouse and hamster cells
K H Astrin, C T Caskey
Genomics
|
May 1, 1992
Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and alpha-galactosidase A
R Kornreich, K H Astrin, R J Desnick
Human Mutation
|
January 1, 1996
Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene
W Xu, K H Astrin, R J Desnick
Genomics
|
June 1, 1990
Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome
D F Bishop, A S Henderson, K H Astrin
Advances in Nephrology From the Necker Hospital
|
January 1, 1989
Fabry disease: molecular genetics of the inherited nephropathy
R J Desnick, K H Astrin, D F Bishop
Journal of Korean Medical Science
|
February 1, 1993
Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program
H W Yoo, K H Astrin, R J Desnick
American Journal of Medical Genetics
|
August 28, 1995
Acute intermittent porphyria: a single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide
G Y Lee, K H Astrin, R J Desnick
American Journal of Human Genetics
|
November 1, 1984
Assignment of the structural gene encoding human aspartylglucosaminidase to the long arm of chromosome 4 (4q21----4qter)
P Aula, K H Astrin, U Francke, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 1, 1984
Regional assignment of the structural gene for human alpha-L-iduronidase
E H Schuchman, K H Astrin, P Aula, et al.
Page
of 4
Search research articles
Search
Showing results (1-10 of 36) with videos related to
Sort By:
Page
of 4
Human Mutation
|
January 1, 1994
Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene
K H Astrin, R J Desnick
Archives of Biochemistry and Biophysics
|
October 1, 1976
Mutants of purine metabolism in cultured mouse and hamster cells
K H Astrin, C T Caskey
Genomics
|
May 1, 1992
Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and alpha-galactosidase A
R Kornreich, K H Astrin, R J Desnick
Human Mutation
|
January 1, 1996
Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene
W Xu, K H Astrin, R J Desnick
Genomics
|
June 1, 1990
Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome
D F Bishop, A S Henderson, K H Astrin
Advances in Nephrology From the Necker Hospital
|
January 1, 1989
Fabry disease: molecular genetics of the inherited nephropathy
R J Desnick, K H Astrin, D F Bishop
Journal of Korean Medical Science
|
February 1, 1993
Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program
H W Yoo, K H Astrin, R J Desnick
American Journal of Medical Genetics
|
August 28, 1995
Acute intermittent porphyria: a single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide
G Y Lee, K H Astrin, R J Desnick
American Journal of Human Genetics
|
November 1, 1984
Assignment of the structural gene encoding human aspartylglucosaminidase to the long arm of chromosome 4 (4q21----4qter)
P Aula, K H Astrin, U Francke, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 1, 1984
Regional assignment of the structural gene for human alpha-L-iduronidase
E H Schuchman, K H Astrin, P Aula, et al.
Page
of 4