Recent interest has focused on the largest pedigree reported to date with histologically proven Lewy body parkinsonism with an autosomal-dominant mode of transmission.' It consisted of descendants of several immigrants to the United States linked to collateral Italian descendants by a common ancesto
A619→G substitution in the HEXB gene is not a deleterious mutation, but a frequent polymorphism
✍ Scribed by Isabelle Redonnet-Vernhet; Martine Chatelut; Louis Buscail; Don J. Mahuran; Robert Salvayre; Thierry Levade
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 228 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
✦ Synopsis
A gene from the human determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. Nature 346:245-250. sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240-244.
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## Abstract Multiple system atrophy (MSA) is characterized clinically by Parkinsonism, cerebellar dysfunction, and autonomic impairment. Multiple mutations in the __LRRK2__ gene are associated with parkinsonian disorders, and the most common one, the G2019S mutation, has been found in ∼1% of sporad