Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event.
作者： Monica Cozar , Bruno Bembi , Silvia Dominissini , Stefania Zampieri , Lluisa Vilageliu
DOI: 10.1016/J.YMGME.2010.10.004
关键词:
摘要: Gaucher disease is the most frequent lysosomal storage disorder due to autosomal recessive deficiency of acid β-glucosidase. More than 300 mutations in GBA1 gene have been described. However only one large deletion has reported date. Here, using a combination different experimental approaches including PCR, sequencing and Southern blot analysis, we describe identification characterization new an inter Alu recombination event.
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