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New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance.

Pediatr Pulmonol. 2017 Nov;52(11):E94-E96. doi:10.1002/ppul.23760
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摘要


Lysinuric protein intolerance (LPI) is an inherited aminoaciduria with an autosomal recessive mode of inheritance.The first two cases of sisters being diagnosed with LPI in China is contained within this report. In our cases, there were two heterozygous mutations in the SLC7A7 gene of the two sisters: deletion of c.1387: del C and IVS4+1C>T. One patient was treated with inhaled rGM-CSF for 1.5 years at 5 μg/kg two times a day. Her condition is improving with no side effects. © 2017 Wiley Periodicals, Inc.

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