Concepedia
Statistics
Publications
4
Citations
337
H-Index
Active since
1993
Affiliations
Inserm(Current)
Hôpital Lyon Sud
Centre National de la Recherche Scientifique
Sylvie Duthel is an author at Inserm specializing in genetics, life sciences, and human genetics.
Publications per year
1993–1996
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
Life Sciences, Genetics, Molecular Genetics +12
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
Life Sciences, Genetics, Molecular Genetics +14
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
Medicine, Genetics, Neurology +10
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
Life Sciences, Biochemistry, Pathology +14
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