✦ LIBER ✦
Molecular analysis of a patient with hydrops fetalis caused by β-glucuronidase deficiency, and evidence for additional pseudogenes
✍ Scribed by R. Vervoort; W. Lissens; I. Liebaers
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 275 KB
- Volume
- 2
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
✦ Synopsis
Communicated by Wilium S. Sly
A patient with hydrops fetalis caused by P-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 j3-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. Q 1993 WiIey.Liss, I ~C .