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Identification of an essential active-site residue in the a-D-phosphohexomutase enzyme superfamily.
Missense mutations and proximal RTA. Have we reached a new threshold? Focus on "missense mutation T485S alters NBCe1-A electrogenicity causing proximal renal tubular acidosis".
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Pseudomonas Infections
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Mahler, Simon
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Mahler, Simon
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Academic Article
Intestinal angioedema misdiagnosed as recurrent episodes of gastroenteritis.
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Gastroenteritis