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

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

Cite this

Scala, M., Traverso, M., Capra, V., Vari, M. S., Severino, M., Grossi, S., Zara, F., Striano, P., & Minetti, C. (2019). Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation. Neuropediatrics, 50(4), 268-270. https://doi.org/10.1055/s-0039-1688954

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

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

author = "Marcello Scala and Monica Traverso and Valeria Capra and Vari, {Maria Stella} and Mariasavina Severino and Serena Grossi and Federico Zara and Pasquale Striano and Carlo Minetti",

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doi = "10.1055/s-0039-1688954",

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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

PY - 2019/8

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DO - 10.1055/s-0039-1688954

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10.1055/s-0039-1688954

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GASLINI - PATOLOGIE MUSCOLARI E NEUROLOGICHE

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

Cite this

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Projects

GASLINI - PATOLOGIE MUSCOLARI E NEUROLOGICHE