A hemizygous GYG2 mutation and Leigh syndrome: a possible link?
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Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome.Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia.Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
P2860
A hemizygous GYG2 mutation and Leigh syndrome: a possible link?
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2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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A hemizygous GYG2 mutation and Leigh syndrome: a possible link?
@en
A hemizygous GYG2 mutation and Leigh syndrome: a possible link?
@nl
type
label
A hemizygous GYG2 mutation and Leigh syndrome: a possible link?
@en
A hemizygous GYG2 mutation and Leigh syndrome: a possible link?
@nl
prefLabel
A hemizygous GYG2 mutation and Leigh syndrome: a possible link?
@en
A hemizygous GYG2 mutation and Leigh syndrome: a possible link?
@nl
P2093
P2860
P1433
P1476
A hemizygous GYG2 mutation and Leigh syndrome: a possible link?
@en
P2093
Akio Yamashita
Eihiko Takahashi
Eri Imagawa
Hideo Sugie
Hitoshi Osaka
Kazuhiro Ogata
Masaaki Shiina
Mitsuko Nakashima
Naomichi Matsumoto
Noriko Miyake
P2860
P2888
P304
P356
10.1007/S00439-013-1372-6
P577
2013-10-08T00:00:00Z
P6179
1051915552