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Search for publications relevant for "synthase reductase deficiency"
synthase reductase deficiency
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publication
cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression
2005 |
First Faculty of Medicine
publication
cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expresion
2005 |
Faculty of Physical Education and Sport
publication
cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression
2005 |
Faculty of Physical Education and Sport
publication
CblE type of homocystinuria due to methionine synthase reductase deficiency: Clinical and molecular studies and prenatal diagnosis in two families
2002 |
First Faculty of Medicine
publication
CblE type of homocystinuria due to methionine synthase reductase deficiency: Clinical and molecular studies and prenatal diagnosis in two families
2002 |
Faculty of Physical Education and Sport
publication
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells
2015 |
First Faculty of Medicine