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Molecular diagnosis of genetic disorders

✍ Scribed by Sylvie Langlois

Publisher: Elsevier Science
Year: 1995
Tongue: English
Weight: 133 KB
Volume: 28
Category: Article
ISSN: 0009-9120
DOI: 10.1016/0009-9120(95)91440-e

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## Abstract Neuroacanthocytoses are neurodegenerative disorders marked by phenotypic and genetic heterogeneity. There are several associated genetic loci, and many defects, including gene deletions and insertions, and missense, nonsense, and splicing mutations, have been found spread over hundreds