Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21388/fullpdf
Reference73 articles.
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3. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype;Braverman;Hum Mutat,2002
4. Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis;Brul;J Clin Invest,1988
5. Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders;Chang;Am J Hum Genet,1998
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