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Am J Med Genet. 1978;2(2):175-90.

Cystinuria genotypes predicted from excretion patterns.

Abstract

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.

PMID:
263436
DOI:
10.1002/ajmg.1320020209
[Indexed for MEDLINE]

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