Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity
Vanier, M T, Rodriguez-Lafrasse, C, Rousson, R, Duthel, S, Harzer, K, Pentchev, P G, Revol, A, Louisot, P
Published in Developmental neuroscience (01.01.1991)
Published in Developmental neuroscience (01.01.1991)
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CTG instability in myotonic dystrophy: molecular genetic analysis of families from south-eastern France with characteristics of intergenerational variation in CGT repeat numbers
Duthel, S, Bost, M, Ollagnon, E, Vial, C, Petiot, P, Chazot, G, Vandenberghe, A
Published in Annales de génétique (1999)
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Published in Annales de génétique (1999)
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Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa
Vanier, M T, Ferlinz, K, Rousson, R, Duthel, S, Louisot, P, Sandhoff, K, Suzuki, K
Published in Human genetics (01.10.1993)
Published in Human genetics (01.10.1993)
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X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene
Ressot, C, Latour, P, Blanquet-Grossard, F, Sturtz, F, Duthel, S, Battin, J, Corbillon, E, Ollagnon, E, Serville, F, Vandenberghe, A, Dautigny, A, Pham-Dinh, D
Published in Human genetics (01.08.1996)
Published in Human genetics (01.08.1996)
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Molecular diagnosis of Charcot-Marie-Tooth IA disease and hereditary neuropathy with liability to pressure palsies by quantifying CMTIA-REP sequences : consequences of recombinations at variant sites on chromosome 17p11.2-12
VANDENBERGHE, A, LATOUR, P, CHAZOT, G, BOUCHERAT, M, CHAUPLANNAZ, G, CHAPON, F, POUGET, J, DUMAS, R, LAGUENAY, A, OLLAGNON, E, BOST, M, DUTHEL, S
Published in Clinical chemistry (Baltimore, Md.) (01.07.1996)
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Published in Clinical chemistry (Baltimore, Md.) (01.07.1996)
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Molecular diagnosis of Charcot-Marie-Tooth 1A disease and hereditary neuropathy with liability to pressure palsies by quantifying CMT1A-REP sequences: consequences of recombinations at variant sites on chromosomes 17p11.2-12
Vandenberghe, A, Latour, P, Chauplannaz, G, Chapon, F, Pouget, J, Dumas, R, Laguenay, A, Ollagnon, E, Bost, M, Duthel, S, Chazot, G, Boucherat, M
Published in Clinical chemistry (Baltimore, Md.) (01.07.1996)
Published in Clinical chemistry (Baltimore, Md.) (01.07.1996)
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