Sylvie Duthel

Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.

M. T. Vanier, Sylvie Duthel, Claire Rodriguez‐Lafrasse et al. · PubMed · 1996 · 236 citations

Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa

Marie T. Vanier, Klaus Ferlinz, Robert Rousson et al. · Human Genetics · 1993 · 69 citations

Mendelian Disorder, Prevalent Mutation, Northern Africa +8

X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene

Catherine Ressot, Philippe Latour, Fran x E oise Blanquet-Grossard et al. · Human Genetics · 1996 · 22 citations

New Mutations, Molecular Neuroscience, Genetics +7

Glycan microheterogeneity of α1-antitrypsin in serum and meconium from normal and cystic fibrosis patients by crossed immunoaffinoelectrophoresis with different lectins (Con A, LCA, WGA)

Sylvie Duthel, A Revol · Clinica Chimica Acta · 1993 · 10 citations

Cystic Fibrosis Patients, Bioanalysis, Immunology +4