Mutation spectrum and splicing variants in the gene

Author： Delettre Cécile   Griffoin Jean-Michel   Kaplan Josseline   Dollfus Hélène   Lorenz Birgit   Faivre Laurence   Lenaers Guy   Belenguer Pascale   Hamel Christian  

Publisher： Springer Publishing Company

ISSN： 0340-6717

Source： Human Genetics, Vol.109, Iss.6, 2001-12, pp. : 584-591

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