Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation

Marcello Scala; Monica Traverso; Valeria Capra; Maria Stella Vari; Mariasavina Severino; Serena Grossi; Federico Zara; Pasquale Striano; Carlo Minetti

doi:10.1055/s-0039-1688954

Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation

Marcello Scala, Monica Traverso, Valeria Capra, Maria Stella Vari, Mariasavina Severino, Serena Grossi, Federico Zara, Pasquale Striano, Carlo Minetti

Istituto "Giannina Gaslini"

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

Original language	English
Pages (from-to)	268-270
Number of pages	3
Journal	Neuropediatrics
Volume	50
Issue number	4
DOIs	https://doi.org/10.1055/s-0039-1688954
Publication status	Published - Aug 2019

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10.1055/s-0039-1688954

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Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation. / Scala, Marcello; Traverso, Monica ; Capra, Valeria; Vari, Maria Stella; Severino, Mariasavina; Grossi, Serena; Zara, Federico ; Striano, Pasquale ; Minetti, Carlo.

In: Neuropediatrics, Vol. 50, No. 4, 08.2019, p. 268-270.

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

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AU - Scala, Marcello

AU - Traverso, Monica

AU - Capra, Valeria

AU - Vari, Maria Stella

AU - Severino, Mariasavina

AU - Grossi, Serena

AU - Zara, Federico

AU - Striano, Pasquale

AU - Minetti, Carlo

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