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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Detalles Bibliográficos
Autores principales: Zhang, Guoqing, Cao, Ling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Report Published Online
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099373/
https://www.ncbi.nlm.nih.gov/pubmed/29058386
http://dx.doi.org/10.1002/ppul.23760

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099373/
https://www.ncbi.nlm.nih.gov/pubmed/29058386
http://dx.doi.org/10.1002/ppul.23760

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