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Human Mutation
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June 30, 2000
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5
L Kozák, H Francová, E Hrabincová, et al.
Journal of Medical Genetics
|
July 29, 1999
Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles
L Kozák, H Francová, A Pijácková, et al.
Ceskoslovenska Pediatrie
|
November 1, 1990
[Non-ketotic hyperglycinemia]
J Zeman, V Kozich, S Stastná, et al.
Human Mutation
|
January 29, 2000
Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R)
L Kozák, H Francová, L Fajkusová, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 4) with videos related to
Sort By:
Page
of 1
Human Mutation
|
June 30, 2000
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5
L Kozák, H Francová, E Hrabincová, et al.
Journal of Medical Genetics
|
July 29, 1999
Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles
L Kozák, H Francová, A Pijácková, et al.
Ceskoslovenska Pediatrie
|
November 1, 1990
[Non-ketotic hyperglycinemia]
J Zeman, V Kozich, S Stastná, et al.
Human Mutation
|
January 29, 2000
Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R)
L Kozák, H Francová, L Fajkusová, et al.
Page
of 1