Mutation watch

Mutation watch ellOllle Review 9 Springer-Verlag New York Inc. 1997 Mammalian Genome 8, 305-306 (1997). Miriam Meisler Department of Human Genetics, University of Michigan, Ann Arbor MI 48109-0618, USA two mutants is also in press in this journal (Doyle et al. (1997)). As the year 1997 progresses, the cloning of classical mammalian Two human disorders, Familial Hemiplegic Migraine (FHM) and mutations and the generation of new mutants continue at a breath- Episodic Ataxia Type-2 (EA-2), had previously been mapped to taking pace. The association of complex phenotypes with specific overlapping regions of chromosome 19p13. Exon trapping from a molecular defects is generating fascinating insights into basic bio- logical processes and improved understanding of human genetic cosmid contig yielded two exons from the human gene disease. This column will highlight new developments that may be CACNL1A4, and patient mutations were detected by SSCP and denaturing HPLC (Ophoff et al. 1996). Identification of a poly- of particular interest to the readers of Mammalian Genome. morphic CAG repeat in the CACNL1A4 gene and examination of repeat length in patients with spinocerebellar ataxia led to the Holoprosencephaly and Sonic Hedgehog discovery of an expanded repeat in patients (n = 21-27) compared with controls (n = Mammalian Genome Springer Journals

Mutation watch

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Copyright © 1997 by Springer-Verlag
Life Sciences; Cell Biology; Anatomy; Zoology
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