POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait.
Adachi
Masanori
M
Department of Endocrinology & Metabolism, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan. madachi@mars.sannet.ne.jp
Asakura
Yumi
Y
Matsuo
Mari
M
Yamamoto
Toshiyuki
T
Hanaki
Keiichi
K
Arlt
Wiebke
W
D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D000483:Alleles; D003398:Craniosynostoses / Q000473:pathology*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D005808:Genes, Recessive / Q000235:genetics*; D005838:Genotype; D006801:Humans; D020125:Mutation, Missense; D009251:NADPH-Ferrihemoprotein Reductase / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D013577:Syndrome; D013580:Synostosis / Q000473:pathology
D009251:NADPH-Ferrihemoprotein Reductase