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博士論文

A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency 98 2

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国立国会図書館デジタルコレクション

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DOI[info:doi/10.1111/cge.13773]to the data of the same series

A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency 2

Persistent ID (NDL)
info:ndljp/pid/11766316
Material type
博士論文
Author
八塚, 由紀子
Publisher
-
Publication date
2020-09-20
Material Format
Digital
Capacity, size, etc.
-
Name of awarding university/degree
順天堂大学,博士（医学）
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2020年度

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Provided by：国立国会図書館デジタルコレクションLink to Help Page

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  • 2024-12-06 再収集

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Digital

Material Type
博士論文
ISSN
0009-9163
Title
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency
Volume
98 2
Author/Editor
八塚, 由紀子
Author Heading
八塚, 由紀子
Publication Date
2020-09-20
Publication Date (W3CDTF)
2020-09-20
Alternative Title
(NDUFA8遺伝子におけるホモ接合変異は、ミトコンドリア呼吸鎖I欠損症によって生じる発達遅滞・小頭症・てんかんに関連する)
Periodical title
Clinical Genetics