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Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency

BACKGROUND: This study aimed to describe the clinical and biochemical features of Chinese patients with ornithine transcarbamylase deficiency (OTCD), and to investigate the mutation spectrum of OTC gene and their potential correlation with phenotype. METHODS: Sixty-nine patients with OTCD were enrol...

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Detalles Bibliográficos
Autores principales:	Lu, Deyun, Han, Feng, Qiu, Wenjuan, Zhang, Huiwen, Ye, Jun, Liang, Lili, Wang, Yu, Ji, Wenjun, Zhan, Xia, Gu, Xuefan, Han, Lianshu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712605/ https://www.ncbi.nlm.nih.gov/pubmed/33272297 http://dx.doi.org/10.1186/s13023-020-01606-2

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