Kelly S
Am J Med Genet. 1978;2(2):175-90. doi: 10.1002/ajmg.1320020209.
Genotypes of 17 patients with cystinuria were predicted from data based on excretion rates of the families' obligate carriers. The methodology differed from that used by other investigators as it did not employ intestinal biopsy studies or loading dose measurements. The Type I form was more common than either Type II or Type III and frequently occurred in combination to give compound heterozygous genotypes with the Type III form.
根据家系中 obligate 携带者的排泄率数据预测了17例胱氨酸尿症患者的基因型。该方法与其他研究者使用的方法不同，因为它没有采用肠道活检研究或负荷剂量测量。I型比II型或III型更常见，并且经常与III型组合出现，形成复合杂合基因型。
