Concepedia

Author

R Exelbert

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Also Known As

R Exelbert

4

Publications

215

Citations

3

H-Index

0

Concepts

All Affiliations

National Institute of Arthritis and Musculoskeletal and Skin Diseases
RE

About

R Exelbert is an author at National Institute of Arthritis and Musculoskeletal and Skin Diseases.

R Exelbert

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3

Publications

215

Citations

3

H-Index

YearCitations

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

Cornelius F. Boerkoel, R Exelbert, Catherine Nicastri,

PubMed

1995

133

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,

PubMed

1995

60

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,

PubMed

1996

22

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