Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/jhg201297.pdf
Reference13 articles.
1. Nimmo, G., Monsonego, S., Descartes, M., Franklin, J., Steinberg, S. & Braverman, N. Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1. Am. J. Med. Genet. A 152A, 1812–1817 (2010).
2. Turner, C. L., Bunyan, D. J., Thomas, N. S., Mackay, D. J., Jones, H. P., Waterham, H. R. et al. Zellweger syndrome resulting from maternal isodisomy of chromosome 1. Am. J. Med. Genet. A 143A, 2172–2177 (2007).
3. Zlotogora, J. Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles. Hum. Genet. 114, 521–526 (2004).
4. Cheon, J. E., Kim, I. O., Hwang, Y. S., Kim, K. J., Wang, K. C., Cho, B. K. et al. Leukodystrophy in children: a pictorial review of MR imaging features. Radiographics 22, 461–476 (2002).
5. Gort, L., Coll, M. J. & Chabás, A. Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. Hum. Mutat. 14, 240–248 (1999).
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