Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.

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Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.Lesch-Nyhan disease with no HPRT1 gene mutation?High expression of PRPS1 induces an anti-apoptotic effect in B-ALL cell lines and predicts an adverse prognosis in Chinese children with B-ALL.

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P2860

Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.

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http://www.wikidata.org/entity/Q51839584

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2011 nî lūn-bûn

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2011年の論文

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年學術文章

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2011年學術文章

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name

Molecular analysis of X-linked ...... sm: HPRT1 and PRPS1 mutations.

@en

Molecular analysis of X-linked ...... sm: HPRT1 and PRPS1 mutations.

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type

Item

label

Molecular analysis of X-linked ...... sm: HPRT1 and PRPS1 mutations.

@en

Molecular analysis of X-linked ...... sm: HPRT1 and PRPS1 mutations.

@nl

prefLabel

Molecular analysis of X-linked ...... sm: HPRT1 and PRPS1 mutations.

@en

Molecular analysis of X-linked ...... sm: HPRT1 and PRPS1 mutations.

@nl

P1476

Molecular analysis of X-linked ...... ism: HPRT1 and PRPS1 mutations

@en

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Arisa Yamano

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Atsuo Taniguchi

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Kenichiro Yamada

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Kiyoko Kaneko

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Misako Naiki

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Nobuaki Wakamatsu

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Noriko Nomura

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Noriko Yamaoka

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Reiko Kimura

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Shin Fujimori

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P2860

Arts syndrome is caused by loss-of-function mutations in PRPS1

Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)

Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2

The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity

Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.

Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.

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1272-1275

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scholarly article

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10.1080/15257770.2011.597369

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P478

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Daisuke Fukushi

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2011-12-01T00:00:00Z

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P698

22132986

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Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.

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P2860

P2860

Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.

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P1433

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P698