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 / Cozzolino, M; Augello, B; Carella, M; Palumbo, O; Tavazzi, B; Amorini, Am; Lazzarino, G; Merla, G; BRUNETTI PIERRI, Nicola. - In: MOLECULAR GENETICS AND METABOLISM. - ISSN 1096-7206. - 104:4(2011), pp. 706-707. [10.1016/j.ymgme.2011.09.031]
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation
Merla G;BRUNETTI PIERRI, NICOLA
2011
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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