Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China
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DOI: 10.1002/jcla.22665
Abstract: Tetrahydrobiopterin (BH4) 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… read more here.
Keywords: mutation pedigree; analysis; gene mutation; deficiency ... See more keywords