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Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity

✍ Scribed by Jeffrey H. Miner


Book ID
101449753
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
51 KB
Volume
152A
Category
Article
ISSN
1552-4825

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## Communicated by Claude Fe Β΄rec Hartnup disorder is an autosomal recessive impairment of amino acid transport in kidney and intestine. Mutations in SLC6A19 have been shown to cosegregate with the disease in the predicted recessive manner; however, in two previous studies (Seow et al., Nat Genet