NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study

BACKGROUND: Argininosuccinic aciduria (ASAuria; OMIM 207900) is a rare autosomal recessive heterogeneous urea cycle disorder, which leads to the accumulation of argininosuccinic acid in the blood and urine. We aimed to perform genetic test to the patient and help clinician to diagnose precisely. CAS...

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Detalles Bibliográficos
Autores principales: Wen, Wei, Yin, Dan, Huang, Fangfang, Guo, Meng, Tian, Tian, Zhu, Hui, Yang, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739340/
https://www.ncbi.nlm.nih.gov/pubmed/26843370
http://dx.doi.org/10.1186/s12881-016-0273-7

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