Deletions Revealing Recessive Genes: Deletions that reveal recessive genes
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/5201919.pdf
Reference10 articles.
1. Flipsen-ten Berg K, van Hasselt PM, Eleveld MJ et al: Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome. Eur J Hum Genet 2007; (e-pub ahead of print).
2. Lee ST, Nicholls RD, Bundey S et al: Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader–Willi syndrome plus albinism. N Engl J Med 1994; 330: 529–534.
3. Goodship J, Cross I, Scambler P, Burn J : Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J Med Genet 1995; 32: 746–748.
4. Yamagishi H, Ishii C, Maeda J et al: Phenotypic discordance in monozygotic twins with 22q11.2 deletion. Am J Med Genet 1998; 78: 319–321.
5. Ikegawa S, Ohashi H, Hosoda F et al: Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)]. Am J Med Genet 1998; 77: 356–359.
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