Support to the autosomal recessive inheritance for histidinaemia is given by the finding of an affected product from a first-cousin marriage. The histidine loading test done on the parents confirms previous reports that female heterozygous metabolize the amino acid at a slower rate than male heterozygous.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1013147 | PMC |
http://dx.doi.org/10.1136/jmg.11.3.296 | DOI Listing |
Support to the autosomal recessive inheritance for histidinaemia is given by the finding of an affected product from a first-cousin marriage. The histidine loading test done on the parents confirms previous reports that female heterozygous metabolize the amino acid at a slower rate than male heterozygous.
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