Articles with "mutation pedigree" as a keyword



Photo from academic.microsoft.com

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

Sign Up to like & get
recommendations!
Published in 2019 at "Journal of Clinical Laboratory Analysis"

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