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Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.

Bibliographic reference Marie, S. ; Cuppens, Harry ; Heuterspreute, M ; Jaspers, Martine ; Tola, E Z ; et. al. Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.. In: Human mutation, Vol. 13, no. 3, p. 197-202 (1999)
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