Concepedia
3
Publications
215
Citations
H-Index
1995
Active since
Affiliations
National Institute of Arthritis and Musculoskeletal and Skin Diseases(Current)
R Exelbert is an author at National Institute of Arthritis and Musculoskeletal and Skin Diseases.
Publications per year
1995–1996
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
Cornelius F. Boerkoel, R Exelbert, Catherine Nicastri et al. · PubMed · 1995 · 133 citations
Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.
Nina Raben, R Exelbert, Roland Spiegel et al. · PubMed · 1995 · 60 citations
Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.
Ralph C. Nichols, Olle Rudolphi, B. Ek et al. · PubMed · 1996 · 22 citations · Full text
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