https://bcl2-signaling.com/ind....ex.php/advancement-i
Results One patient with a heterozygous HPD gene (NM_002150.2) c.460G A mutation and another patient with a heterozygous HPD gene (NM_002150.2) c.248delG mutation showing elevated tyrosine levels upon newborn assessment by tandem mass spectrometry (MS/MS) tend to be reported. Conclusions The HPD gene is almost certainly not a strictly autosomal recessive pathogenic gene, which gives a brand new point of view for the clinical comprehension of the pathogenesis of tyrosinemia kind III or ha
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