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New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance
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 sister...
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| 發表在: | Pediatr Pulmonol |
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| Main Authors: | , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
John Wiley and Sons Inc.
2017
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6099373/ https://ncbi.nlm.nih.gov/pubmed/29058386 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ppul.23760 |
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