Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China

BACKGROUND: Tetrahydrobiopterin (BH (4)) deficiency is an autosomal recessive disorder, which is caused by an enzyme deficiency involved in its synthetic or metabolic pathways. Clinical symptoms may include microcephaly, hypoevolutism, severe ataxia, and seizures. The purposes of this study are to a...

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Bibliografiske detaljer
Udgivet i:J Clin Lab Anal
Main Authors: Li, Long, Qin, Yulan, Su, Yajie, Jiang, Haili, Rejiafu, Nuerya, Li, Mingzhu, Muhetaer, Ayijiamali, Liu, Yongqiao, Ren, Yan
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2018
Fag:
Brief Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6818561/
https://ncbi.nlm.nih.gov/pubmed/30221392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.22665
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