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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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| Publicado no: | Pediatr Pulmonol |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2017
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| Assuntos: | |
| Acesso em linha: | 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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