Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1756-0500

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report ; volume:7 ; number:1 ; day:22 ; month:7 ; year:2014 ; pages:1-8 ; date:12.2014
BMC Research Notes / Biomed Central ; 7, Heft 1 (22.7.2014), 1-8, 12.2014

Creator: Shimojima, Keiko
Narita, Aya
Maegaki, Yoshihiro
Saito, Akira
Furukawa, Toru
Yamamoto, Toshiyuki

Contributor: SpringerLink (Online service)

DOI: 10.1186/1756-0500-7-465

URN: urn:nbn:de:101:1-2021082107015054442235

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:45 AM CEST

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Shimojima, Keiko
Narita, Aya
Maegaki, Yoshihiro
Saito, Akira
Furukawa, Toru
Yamamoto, Toshiyuki
SpringerLink (Online service)

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Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report

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Other Objects (12)

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