Concepedia

Stéphanie Zäch

SZ

Statistics

Publications

3

Citations

261

H-Index

3

Active since

2000

Affiliations

Brigham and Women's Hospital(Current)

University of Cape Town

University of Lausanne

Women's and Children's Hospital

Harvard University

Stéphanie Zäch is an author at Brigham and Women's Hospital specializing in molecular genetics, life sciences, and pseudoxanthoma elasticum.

Publications per year

2000–2001

3

Publications

3

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

Berthold Struk, Li Cai, Stéphanie Zäch et al. · Journal of Molecular Medicine · 2000 · 144 citations

, , +8

A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure

Li Cai, Berthold Struk, Mark D. Adams et al. · Journal of Molecular Medicine · 2000 · 64 citations

, , +8

A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum

Li Cai, Amanda L. Lumsden, Ulf P. Guenther et al. · Journal of Molecular Medicine · 2001 · 53 citations

, , +12

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