Literature DB >> 7915167

Molecular characterization of phenylketonuric mutations in Japanese by analysis of phenylalanine hydroxylase mRNA from lymphoblasts.

Y Okano1, Y Hase, H Shintaku, K Araki, J Furuyama, T Oura, G Isshiki.   

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Year:  1994        PMID： 7915167     DOI： 10.1093/hmg/3.4.659

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  4 in total

Review 1.  A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria.

Authors:  H Erlandsen; R C Stevens
Journal:  J Inherit Metab Dis       Date:  2001-04       Impact factor: 4.982

Review 2.  Genetic etiology and clinical challenges of phenylketonuria.

Authors:  Nasser A Elhawary; Imad A AlJahdali; Iman S Abumansour; Ezzeldin N Elhawary; Nagwa Gaboon; Mohammed Dandini; Abdulelah Madkhali; Wafaa Alosaimi; Abdulmajeed Alzahrani; Fawzia Aljohani; Ehab M Melibary; Osama A Kensara
Journal:  Hum Genomics       Date:  2022-07-19       Impact factor: 6.481

3.  Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria.

Authors:  Yong Wha Lee; Dong Hwan Lee; Nam Doo Kim; Seung Tae Lee; Jee Young Ahn; Tae Youn Choi; You Kyoung Lee; Sun Hee Kim; Jong Won Kim; Chang Seok Ki
Journal:  Exp Mol Med       Date:  2008-10-31       Impact factor: 8.718

4.  Rapid single-base mismatch detection in genotyping for phenylketonuria.

Authors:  Yutaka Takarada; Shohei Kagawa; Yoshiyuki Okano; Takakuni Tanizawa
Journal:  Mol Biotechnol       Date:  2003-07       Impact factor: 2.860
  4 in total

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