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R Exelbert
R Exelbert
Molecular biology
Genetics
Exon
Biology
Mutation
3
Papers
188
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0.01
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Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.
1996
American Journal of Human Genetics
Ralph C. Nichols
O. Rudolphi
B Ek
R Exelbert
Paul H. Plotz
Nina Raben
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Citations (19)
Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.
1995
American Journal of Human Genetics
Nina Raben
R Exelbert
R. Spiegel
Jeffrey B. Sherman
Hiromu Nakajima
Paul H. Plotz
J. Heinisch
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Citations (57)
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
1995
American Journal of Human Genetics
Cornelius F. Boerkoel
R Exelbert
C. Nicastri
Ralph C. Nichols
Frederick W. Miller
Paul H. Plotz
Nina Raben
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Citations (112)
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