peroxisomal disorders

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Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation.
Havali, Cengiz;Dorum, Sevil;Akbaş, Yılmaz;Görükmez, Orhan;Hirfanoglu, Tugba;
2020 journal of pediatric endocrinology & metabolism :... DOI: 10.1515/jpem-2019-01... 328 views

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journal of pediatric endocrinology & metabolism : jpem
ISSN: 2191-0251 954 views

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genotype-phenotype correlation pex mutations