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Exon skipping associated with A→G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene

Hutter, Pierre ; E.Antonarakis, Stylianos ; Delozier-Blanchet, Célla D. ; Morris, Michael A.

In: Human Molecular Genetics, 1994, vol. 3, no. 4, p. 663-665

Consortium of Swiss Academic Libraries

Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1α gene

Lissens, Willy ; Desguerre, Isabelle ; Benelli, Chantal ; Marsac, Cécile ; Fouque, Françoise ; Haenggell, Charles ; Ponsot, Gérard ; Seneca, Sara ; Liebaers, Inge ; Meirleir, Linda De

In: Human Molecular Genetics, 1995, vol. 4, no. 2, p. 307-308

Consortium of Swiss Academic Libraries

Two novel mutations: 5108delAG and 5816insG in the NF1 gene detected by SSCP analysis

Zhong, Jun ; Spiegel, Roland ; Boltshauser, Eugen ; Schmid, Werner

In: Human Molecular Genetics, 1993, vol. 2, no. 9, p. 1491-1492

Consortium of Swiss Academic Libraries

An additional family with Startle disease and a G1192A mutation at the α1 subunit of the inhibitory glycine receptor gene

F.Schorderet, Daniel ; Pescia, Graziano ; Bernasconi, Andrea ; Regli, Franco

In: Human Molecular Genetics, 1994, vol. 3, no. 7, p. 1201-1201

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