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

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

doi:10.1002/ajmg.a.31112

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

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

Metabolism and Systems Research

Research output: Contribution to journal › Article › peer-review

27 Citations (Scopus)

Original language	English
Pages (from-to)	633-635
Number of pages	3
Journal	American Journal of Medical Genetics Part A
Volume	140
Issue number	6
Early online date	1 Jan 2006
DOIs	https://doi.org/10.1002/ajmg.a.31112
Publication status	Published - 15 Mar 2006

Keywords

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

Access to Document

10.1002/ajmg.a.31112

Pre-Receptor Regulation of Dehydroepiandrosterone Synthesis, Metabolism and Action
Arlt, W.
Medical Research Council
1/08/04 → 31/10/09
Project: Research Councils

Cite this

@article{48a958b1032c4c3680aea635791e2e68,

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

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

author = "Masanori Adachi and Yumi Asakura and Mari Matsuo and Toshiyuki Yamamoto and Keiichi Hanaki and Wiebke Arlt",

year = "2006",

month = mar,

day = "15",

doi = "10.1002/ajmg.a.31112",

language = "English",

volume = "140",

pages = "633--635",

journal = "American Journal of Medical Genetics Part A",

issn = "1552-4833",

publisher = "Wiley",

number = "6",

}

TY - JOUR

T1 - POR R457H is a global founder mutation causing Antley–Bixler syndrome with autosomal recessive trait

AU - Adachi, Masanori

AU - Asakura, Yumi

AU - Matsuo, Mari

AU - Yamamoto, Toshiyuki

AU - Hanaki, Keiichi

AU - Arlt, Wiebke

PY - 2006/3/15

Y1 - 2006/3/15

KW - Abnormalities, Multiple

KW - Alleles

KW - Craniosynostoses

KW - DNA Mutational Analysis

KW - Exons

KW - Gene Frequency

KW - Genes, Recessive

KW - Genotype

KW - Humans

KW - Mutation, Missense

KW - NADPH-Ferrihemoprotein Reductase

KW - Polymorphism, Single Nucleotide

KW - Syndrome

KW - Synostosis

UR - http://www.scopus.com/inward/record.url?scp=33644862230&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.31112

DO - 10.1002/ajmg.a.31112

M3 - Article

C2 - 16470797

SN - 1552-4833

VL - 140

SP - 633

EP - 635

JO - American Journal of Medical Genetics Part A

JF - American Journal of Medical Genetics Part A

IS - 6

ER -

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

Keywords

Access to Document

Projects

Pre-Receptor Regulation of Dehydroepiandrosterone Synthesis, Metabolism and Action

Cite this