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

@article{3a5a4d5549924d4a9db7c2ea969e3b90,

title = "Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation",

author = "Mariarosaria Cozzolino and Bartolomeo Augello and Massimo Carella and Orazio Palumbo and Barbara Tavazzi and Amorini, {Angela Maria} and Giuseppe Lazzarino and Giuseppe Merla and Nicola Brunetti-Pierri",

year = "2011",

month = dec,

doi = "10.1016/j.ymgme.2011.09.031",

language = "English",

volume = "104",

pages = "706--707",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",

publisher = "Academic Press Inc.",

number = "4",

}

TY - JOUR

T1 - Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation

AU - Cozzolino, Mariarosaria

AU - Augello, Bartolomeo

AU - Carella, Massimo

AU - Palumbo, Orazio

AU - Tavazzi, Barbara

AU - Amorini, Angela Maria

AU - Lazzarino, Giuseppe

AU - Merla, Giuseppe

AU - Brunetti-Pierri, Nicola

PY - 2011/12

Y1 - 2011/12

UR - http://www.scopus.com/inward/record.url?scp=82255175710&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=82255175710&partnerID=8YFLogxK

U2 - 10.1016/j.ymgme.2011.09.031

DO - 10.1016/j.ymgme.2011.09.031

M3 - Article

C2 - 22019069

AN - SCOPUS:82255175710

VL - 104

SP - 706

EP - 707

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

IS - 4

ER -

Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation

ASJC Scopus subject areas

Access to Document

Other files and links

Cite this