doi: 10.1002/ajmg.1320210420.
Krabbe disease: increased incidence in a highly inbred community
- PMID: 4025402
- DOI: 10.1002/ajmg.1320210420
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Krabbe disease: increased incidence in a highly inbred community
Am J Med Genet.
1985 Aug.
Abstract
Krabbe disease (globoid cell leukodystrophy) was found with very high incidence (6/1,000 live births) in a large Druze kindred in Israel. The clinical data on 12 of the affected children demonstrated clinical variability even though these children are homozygous for the same mutation by descent from a common ancestor.
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