Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.
about
Novel hypoxanthine guanine phosphoribosyltransferase gene mutations in Saudi Arabian hyperuricemia patientsGenotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.Novel mutation in HPRT1 causing a splicing error with multiple variations.Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.
P2860
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P2860
Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
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2006年學術文章
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2006年學術文章
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name
Molecular analysis of HPRT def ...... utations with novel mutations.
@en
Molecular analysis of HPRT def ...... utations with novel mutations.
@nl
type
label
Molecular analysis of HPRT def ...... utations with novel mutations.
@en
Molecular analysis of HPRT def ...... utations with novel mutations.
@nl
prefLabel
Molecular analysis of HPRT def ...... utations with novel mutations.
@en
Molecular analysis of HPRT def ...... utations with novel mutations.
@nl
P2093
P1476
Molecular analysis of HPRT def ...... utations with novel mutations.
@en
P2093
Kenichiro Yamada
Nobuaki Wakamatsu
Noriko Nomura
Yasukazu Yamada
P356
10.1016/J.YMGME.2006.08.013
P577
2006-10-04T00:00:00Z