Komaru et al., 2005 - Google Patents
Novel aggregate formation of a frame‐shift mutant protein of tissue‐nonspecific alkaline phosphatase is ascribed to three cysteine residues in the C‐terminal …Komaru et al., 2005
View PDF- Document ID
- 3201542508085380043
- Author
- Komaru K
- Ishida Y
- Amaya Y
- Goseki‐Sone M
- Orimo H
- Oda K
- Publication year
- Publication venue
- The FEBS journal
External Links
Snippet
In the majority of hypophosphatasia patients, reductions in the serum levels of alkaline phosphatase activity are caused by various missense mutations in the tissue‐nonspecific alkaline phosphatase (TNSALP) gene. A unique frame‐shift mutation due to a deletion of T …
- 102100013691 ALPL 0 title abstract description 216
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