Rostenberg I, Guïzar J, Alejandre I, Benïtez S, Armendares S
J Med Genet. 1974 Sep;11(3):296-7. doi: 10.1136/jmg.11.3.296.
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.
通过对一对近亲结婚所生后代中发现患病个体的研究,支持了组氨酸血症的常染色体隐性遗传模式。对父母进行的组氨酸负荷试验证实了之前的报告,即女性杂合子代谢氨基酸的速度比男性杂合子慢。