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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...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
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 |