Literature DB >> 9630082

A novel point mutation associated with alkaptonuria.

K Higashino, W Liu, T Ohkawa, T Yamamoto, K Fukui, M Ohno, H Imanishi, A Iwasaki, Y Amuro, T Hada.   

Abstract

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Year:  1998        PMID： 9630082     DOI： 10.1111/j.1399-0004.1998.tb02684.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  7 in total

1.  An update on molecular genetics of Alkaptonuria (AKU).

Authors:  Andrea Zatkova
Journal:  J Inherit Metab Dis       Date:  2011-07-01       Impact factor: 4.982

2.  Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.

Authors:  U Felbor; Y Mutsch; F Grehn; C R Müller; W Kress
Journal:  Br J Ophthalmol       Date:  1999-06       Impact factor: 4.638

3.  High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.

Authors:  A Zatková; D B de Bernabé; H Poláková; M Zvarík; E Feráková; V Bosák; V Ferák; L Kádasi; S R de Córdoba
Journal:  Am J Hum Genet       Date:  2000-10-02       Impact factor: 11.025

4.  Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).

Authors:  D Beltrán-Valero de Bernabé; F J Jimenez; R Aquaron; S Rodríguez de Córdoba
Journal:  Am J Hum Genet       Date:  1999-05       Impact factor: 11.025

5.  Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

Authors:  Thierry Vilboux; Michael Kayser; Wendy Introne; Pim Suwannarat; Isa Bernardini; Roxanne Fischer; Kevin O'Brien; Robert Kleta; Marjan Huizing; William A Gahl
Journal:  Hum Mutat       Date:  2009-12       Impact factor: 4.878

6.  Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.

Authors:  O Uyguner; E Goicoechea de Jorge; A Cefle; T Baykal; H Kayserili; K Cefle; M Demirkol; M Yuksel-Apak; S Rodriguez de Córdoba; B Wollnik
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 7.  Ochronosis in differential diagnosis of patients with chronic backache: a review of the literature.

Authors:  Erhan Capkin; Murat Karkucak; Savaş Yayli; Münevver Serdaroğlu; Mehmet Tosun
Journal:  Rheumatol Int       Date:  2007-06-13       Impact factor: 2.631
  7 in total

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