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An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1.
Hum Genet. 1991 Aug;87(4):394-6. doi: 10.1007/BF00197154.
Hum Genet. 1991.
PMID: 1879825
The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.
Konecki DS, Schlotter M, Trefz FK, Lichter-Konecki U.
Konecki DS, et al.
Hum Genet. 1991 Aug;87(4):389-93. doi: 10.1007/BF00197153.
Hum Genet. 1991.
PMID: 1679030
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