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Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication

✍ Scribed by Michael M. Dos Santos; Caspar Grond-Ginsbach; Suna Su Aksay; Bowang Chen; Sandrine Tchatchou; Nicole I. Wolf; Marjo S. van der Knaap; Armin J. Grau


Publisher
Springer
Year
2011
Tongue
English
Weight
238 KB
Volume
259
Category
Article
ISSN
0340-5354

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Osteoarthrosis represents a very common disease with heterogeneous etiology. In some pedigrees linkage of the condition with the type I1 collagen gene (COUAI) has been established, but information on the underlying gene defect is still incomplete as only one mutation causing this phenotype has been