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Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes.
Department of Medical Genetics, University Hospital, Vrije Universiteit Brussel, Belgium.
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.
PMID: 8111412 [PubMed - indexed for MEDLINE]
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Cited by 4 PubMed Central articles
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Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase.
Tomatsu S, Orii KO, Vogler C, Grubb JH, Snella EM, Gutierrez M, Dieter T, Holden CC, Sukegawa K, Orii T, et al.
Hum Mol Genet. 2003 May 1; 12(9):961-73.
[Hum Mol Genet. 2003]
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Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.
Tomatsu S, Orii KO, Vogler C, Grubb JH, Snella EM, Gutierrez MA, Dieter T, Sukegawa K, Orii T, Kondo N, et al.
Proc Natl Acad Sci U S A. 2002 Nov 12; 99(23):14982-7. Epub 2002 Oct 28.
[Proc Natl Acad Sci U S A. 2002]
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Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.
Vervoort R, Islam MR, Sly WS, Zabot MT, Kleijer WJ, Chabas A, Fensom A, Young EP, Liebaers I, Lissens W.
Am J Hum Genet. 1996 Mar; 58(3):457-71.
[Am J Hum Genet. 1996]
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