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Unexpected clinicopathological phenotype linked to small elongation of CAG repeat in SCA1 gene

โœ Scribed by T. Uchihara; Y. Takeda; T. Kobayashi; T. Kasuga; K. Ishikawa; K. Kirei; H. Mizusawa; T. Endo; K. Hirokawa; T. Kuroiwa


Book ID
106093132
Publisher
Springer
Year
2005
Tongue
English
Weight
204 KB
Volume
253
Category
Article
ISSN
0340-5354

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Patterns of CAG repeat interruptions in
โœ Krzysztof Sobczak; Wlodzimierz J. Krzyzosiak ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 346 KB

About 3% of the human genome is composed of simple sequence repeats and many of these sequences occur within genes. These repeats are often polymorphic in a normal population and their expansion in specific genes leads to a number of hereditary neurological diseases. Normal variants of disease-relat