Unmasking a recessive allele on one chromosome by a deletion on the other is a disease causing mechanism often invoked but rarely proven. We report on an Italian female patient with Canavan disease (OMIM# 271900) due to a missense mutation of the aspartoacylase (ASPA) gene and a 17p13.3 chromosomal microdeletion.
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation
AMORINI AM;LAZZARINO, Giuseppe;
2011-01-01
Abstract
Unmasking a recessive allele on one chromosome by a deletion on the other is a disease causing mechanism often invoked but rarely proven. We report on an Italian female patient with Canavan disease (OMIM# 271900) due to a missense mutation of the aspartoacylase (ASPA) gene and a 17p13.3 chromosomal microdeletion.File in questo prodotto:
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