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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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Detalhes bibliográficos
Publicado no:Pediatr Pulmonol
Main Authors: Zhang, Guoqing, Cao, Ling
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
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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