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Merosin-deficient congenital muscular dystrophy in Korea

โœ Scribed by Jong-Hee Chae; Jin Sook Lee; Hee Hwang; Ki Joong Kim; Yong Seung Hwang; June Dong Park; Jung-Eun Cheon; In-One Kim; Ghee Young Choe; Sung Hye Park


Book ID
113498650
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
306 KB
Volume
31
Category
Article
ISSN
0387-7604

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Merosin and congenital muscular dystroph
โœ Miyagoe-Suzuki, Yuko; Nakagawa, Masahiro; Takeda, Shin'Ichi ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 181 KB

Merosin (also called as Laminin-2) is an isoform of laminin comprised of the โฃ2, โค1 and โฅ1 chains. In European populations, half of the patients with classical congenital muscular dystrophy have mutations of the LAMA2 gene (6q22-23) and present reduced or absence of laminin โฃ2 chain. This form is ge