Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation

Mariarosaria Cozzolino; Bartolomeo Augello; Massimo Carella; Orazio Palumbo; Barbara Tavazzi; Angela Maria Amorini; Giuseppe Lazzarino; Giuseppe Merla; Nicola Brunetti-Pierri

doi:10.1016/j.ymgme.2011.09.031

Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation

Mariarosaria Cozzolino, Bartolomeo Augello, Massimo Carella, Orazio Palumbo, Barbara Tavazzi, Angela Maria Amorini, Giuseppe Lazzarino, Giuseppe Merla, Nicola Brunetti-Pierri

IRCCS Casa Sollievo della Sofferenza

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	706-707
Number of pages	2
Journal	Molecular Genetics and Metabolism
Volume	104
Issue number	4
DOIs	https://doi.org/10.1016/j.ymgme.2011.09.031
Publication status	Published - Dec 2011

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Genetics
Endocrinology
Endocrinology, Diabetes and Metabolism

Access to Document

10.1016/j.ymgme.2011.09.031

Cite this

Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation. / Cozzolino, Mariarosaria; Augello, Bartolomeo ; Carella, Massimo ; Palumbo, Orazio; Tavazzi, Barbara; Amorini, Angela Maria; Lazzarino, Giuseppe; Merla, Giuseppe; Brunetti-Pierri, Nicola.

In: Molecular Genetics and Metabolism, Vol. 104, No. 4, 12.2011, p. 706-707.

Research output: Contribution to journal › Article › peer-review

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