Article
Origin of Finnish mutations causing aspartylglucosaminuria.
Hereditas - 1 Jan 1999
Valkonen S, Hietala M, Savontaus M L, Aula P
Abstract excerpt
Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disease highly enriched in Finland where one mutation AGUFin major is responsible for 98% of the AGUFin alleles. Another mutation AGUFin minor has been identified in eight compound heterozygote patients who have AGUFin major mutation in their other allele. In addition four compound heterozygote patients have AGUFin major in one allele and...
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