A Japanese trichothiodystrophy patient with XPD mutations.
about
Xeroderma pigmentosum and other diseases of human premature aging and DNA repair: molecules to patientsFunctional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene.A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.
P2860
A Japanese trichothiodystrophy patient with XPD mutations.
description
2010 nî lūn-bûn
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2010年の論文
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2010年学术文章
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2010年学术文章
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2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
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2010年学术文章
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2010年學術文章
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2010年學術文章
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name
A Japanese trichothiodystrophy patient with XPD mutations.
@en
A Japanese trichothiodystrophy patient with XPD mutations.
@nl
type
label
A Japanese trichothiodystrophy patient with XPD mutations.
@en
A Japanese trichothiodystrophy patient with XPD mutations.
@nl
prefLabel
A Japanese trichothiodystrophy patient with XPD mutations.
@en
A Japanese trichothiodystrophy patient with XPD mutations.
@nl
P2093
P2860
P356
P1476
A Japanese trichothiodystrophy patient with XPD mutations.
@en
P2093
Kiyoji Tanaka
Makoto Uchiyama
Masafumi Saijo
Nobuyuki Sato
Takehiro Kobayashi
Touhei Usuda
P2860
P2888
P356
10.1038/JHG.2010.123
P577
2010-10-14T00:00:00Z