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Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis

โœ Scribed by SHINOBU FUKUMURA; YOSHIAKI SAITO; TAKASHI SAITO; HIROFUMI KOMAKI; EIJI NAKAGAWA; KENJI SUGAI; MASAYUKI SASAKI; AKIRA OKA; ITARU TAKAMISAWA


Book ID
115266748
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
194 KB
Volume
54
Category
Article
ISSN
0012-1622

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Spectrum of CLN6 mutations in variant la
โœ Julie D. Sharp; Ruth B. Wheeler; Keith A. Parker; R. Mark Gardiner; Ruth E. Will ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 171 KB

The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative diseases of childhood. CLN6, the gene mutated in variant late infantile NCL (vLINCL), was recently cloned. We report the identification of eight further mutations in CLN6 making a total of 18 reported muta