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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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| Publicado no: | J Clin Lab Anal |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2018
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| Assuntos: | |
| Acesso em linha: | 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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