The Italian patient is 14 years old, P.S., the sweat chloride value was 46 mmol/L , sodium value was 64mmol/L. He had respiratory symptoms since 6 y old. He had in the same chromosome (in cis) the missense mutation p.Glu826Lys. The other chromosome carries the p. Phe508del mutation.
Mutation Details for c.3308 T to A.
ANGIUS, Antonella;STASI, Mario;BECCHETTI, TIZIANA;BITETTI, MARIA ROSARIA;CARDELLINI, MARIA CHIARA;PORRO, ILARIA;FURBETTA, Mario
2010
Abstract
The Italian patient is 14 years old, P.S., the sweat chloride value was 46 mmol/L , sodium value was 64mmol/L. He had respiratory symptoms since 6 y old. He had in the same chromosome (in cis) the missense mutation p.Glu826Lys. The other chromosome carries the p. Phe508del mutation.File in questo prodotto:
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