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Neurofibromatosis type I (NFI) in Israeli families: Linkage analysis as a diagnostic tool

✍ Scribed by Elyakim, Segal ;Lerer, Israela ;Zlotogora, Joel ;Sagi, Michal ;Gelman-Kohan, Zully ;Merin, Saul ;Abeliovich, Dvorah


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
746 KB
Volume
53
Category
Article
ISSN
0148-7299

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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