Literature DB >> 8111412

Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes.

R Vervoort1, W Lissens, I Liebaers.   

Abstract

A patient with hydrops fetalis caused by beta-glucuronidase deficiency was found to be homozygous for a C to T transition at nucleotide position 672 in his cDNA. Genomic analysis showed the presence of pseudogenes for the beta-glucuronidase gene. After separation of PCR products of the gene and the pseudogenes it was shown that the patient and his father were heterozygous for the C-T 672 transition and the mother did not carry the mutation.

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Year:  1993        PMID： 8111412     DOI： 10.1002/humu.1380020604

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


  8 in total

Review 1.  The role of beta-glucuronidase in drug disposition and drug targeting in humans.

Authors:  B Sperker; J T Backman; H K Kroemer
Journal:  Clin Pharmacokinet       Date:  1997-07       Impact factor: 6.447

2.  Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.

Authors:  Shunji Tomatsu; Koji O Orii; Carole Vogler; Jeffrey H Grubb; Elizabeth M Snella; Monica A Gutierrez; Tatiana Dieter; Kazuko Sukegawa; Tadao Orii; Naomi Kondo; William S Sly
Journal:  Proc Natl Acad Sci U S A       Date:  2002-10-28       Impact factor: 11.205

3.  Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase.

Authors:  Shunji Tomatsu; Koji O Orii; Carole Vogler; Jeffrey H Grubb; Elizabeth M Snella; Monica Gutierrez; Tatiana Dieter; Christopher C Holden; Kazuko Sukegawa; Tadao Orii; Naomi Kondo; William S Sly
Journal:  Hum Mol Genet       Date:  2003-05-01       Impact factor: 6.150

4.  Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.

Authors:  Francyne Kubaski; Ana Carolina Brusius-Facchin; Robert W Mason; Pravin Patel; Maira G Burin; Kristiane Michelin-Tirelli; Rejane Gus Kessler; Fernanda Bender; Sandra Leistner-Segal; Carolina A Moreno; Denise P Cavalcanti; Roberto Giugliani; Shunji Tomatsu
Journal:  Prenat Diagn       Date:  2017-03-12       Impact factor: 3.050

5.  Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.

Authors:  R Vervoort; M R Islam; W S Sly; M T Zabot; W J Kleijer; A Chabas; A Fensom; E P Young; I Liebaers; W Lissens
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

6.  A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.

Authors:  R Vervoort; M R Islam; W Sly; A Chabas; R Wevers; J de Jong; I Liebaers; W Lissens
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

Review 7.  Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).

Authors:  Shunji Tomatsu; Adriana M Montaño; Vu Chi Dung; Jeffrey H Grubb; William S Sly
Journal:  Hum Mutat       Date:  2009-04       Impact factor: 4.878

Review 8.  Epidemiology of Mucopolysaccharidoses Update.

Authors:  Betul Çelik; Saori C Tomatsu; Shunji Tomatsu; Shaukat A Khan
Journal:  Diagnostics (Basel)       Date:  2021-02-10
  8 in total

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