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Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1–14.1

✍ Scribed by L. Krols; Jean-Jacques Martin; Gilles David; Nicole Van Regemorter; Ali Benomar; A. Löfgren; Giovanni Stevanin; Alexandra Dürr; Alexis Brice; C. Van Broeckhoven


Book ID
106136562
Publisher
Springer
Year
1997
Tongue
English
Weight
111 KB
Volume
99
Category
Article
ISSN
0340-6717

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✍ Corien C. Verschuuren-Bemelmans; Ewout R. P. Brunt; Margaret Burton; Rob G. J. M 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 306 KB

The autosomal dominant cerebellar ataxias (ADCA) are clinically and genetically heterogeneous. To date, several loci (SCAI-V) have been identified for ADCA type I. We have studied two large families from the northern part of The Netherlands with ADCA type I with a broad intra-familial variation of s