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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Dades bibliogràfiques
Publicat a:J Clin Lab Anal
Autors principals: Li, Long, Qin, Yulan, Su, Yajie, Jiang, Haili, Rejiafu, Nuerya, Li, Mingzhu, Muhetaer, Ayijiamali, Liu, Yongqiao, Ren, Yan
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2018
Matèries:
Brief Report
Accés en línia: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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