POR R457H is a global founder mutation causing Antley–Bixler syndrome with autosomal recessive trait

descriptionPublicationkeyboard_double_arrow_right Article 14 Feb 2006 English Publisher:WileyJournal:American Journal of Medical Genetics Part A, volume 140A, pages 633-635 (issn: 1552-4825, eissn: 1552-4833,

Authors: Masanori, Adachi; Yumi, Asakura; Mari, Matsuo; Toshiyuki, Yamamoto; Keiichi, Hanaki; Wiebke, Arlt;

doi: 10.1002/ajmg.a.31112

pmid: 16470797

POR R457H is a global founder mutation causing Antley–Bixler syndrome with autosomal recessive trait

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Kanagawa Children's Medical Center
Japan
Tottori University
Japan
University of Birmingham
United Kingdom

Keywords

Genotype, DNA Mutational Analysis, Mutation, Missense, Genes, Recessive, Exons, Syndrome, Polymorphism, Single Nucleotide, Craniosynostoses, Gene Frequency, Synostosis, Humans, Abnormalities, Multiple, Alleles, NADPH-Ferrihemoprotein Reductase

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POR R457H is a global founder mutation causing Antley–Bixler syndrome with autosomal recessive trait

POR R457H is a global founder mutation causing Antley–Bixler syndrome with autosomal recessive trait

7 Research products, page 1 of 1

A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene

Pharmacogenomics of human P450 oxidoreductase

Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley–Bixler syndrome

Did Akhenaten Have the Antley–Bixler Syndrome?

Human P450 Oxidoreductase Deficiency

P450 oxidoreductase deficiency and Antley–Bixler syndrome

Cytochrome P450 Oxidoreductase Gene Mutations and Antley-Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 Patients