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pro vyhledávání: '"Thotakura Pranga Lakshmi"'
Autor:
Archana Vaddinahalli Kariyappa, Shilpa Krishnapura Lakshminarayana, Dhanalakshmi Kumble, Kavitha Siddappa, Kalpana Ramesh Yelsangikar, Mallesh Kariyappa, Thotakura Pranga Lakshmi, Ashwin Dalal
Publikováno v:
Journal of Pediatric Research, Vol 11, Iss 4, Pp 250-253 (2024)
Glu178 is the active site residue essential for substrate affinity and catalytic activity of the aspartoacylase enzyme. Sanger sequencing in an infant with Canavan disease revealed a homozygous ASPA: c.532G>A: p. (Glu178Lys) variant. Glu178Lys is the
Externí odkaz:
https://doaj.org/article/c12e573786e44486b5ffb1e04e736932
