Literature DB >> 9427161

Large deletions in the phenylalanine hydroxylase gene as a cause of phenylketonuria in India.

P Guldberg1, K F Henriksen, K C Mammen, H L Levy, F Güttler.   

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Year:  1997        PMID： 9427161     DOI： 10.1023/a:1005352725283

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  2 in total

1.  Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.

Authors:  P Guldberg; H L Levy; W B Hanley; R Koch; R Matalon; B M Rouse; F Trefz; F de la Cruz; K F Henriksen; F Güttler
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

2.  A single origin of phenylketonuria in Yemenite Jews.

Authors:  S Avigad; B E Cohen; S Bauer; G Schwartz; M Frydman; S L Woo; Y Niny; Y Shiloh
Journal:  Nature       Date:  1990-03-08       Impact factor: 49.962
  2 in total
  3 in total

1.  Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis.

Authors:  J Zschocke; E Quak; A Knauer; B Fritz; M Aslan; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  1999-08       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
  3 in total

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