POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait [1]

American Journal of Medical Genetics

Volumn 140 A, Issue 6, 2006, Pages 633-635

  Adachi, Masanori ^a   Asakura, Yumi ^a   Matsuo, Mari ^a   Yamamoto, Toshiyuki ^a   Hanaki, Keiichi ^b   Arlt, Wiebke ^c  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^b TOTTORI UNIVERSITY   (Japan)

^c UNIVERSITY DEPARTMENT OF MEDICINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE FERRIHEMOPROTEIN REDUCTASE; STEROL 14ALPHA DEMETHYLASE;

ANTLEY BIXLER SYNDROME; ARACHNODACTYLY; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; DNA SEQUENCE; EAR MALFORMATION; GENE; GENE MUTATION; GENOTYPE; HUMAN; JOINT CONTRACTURE; LETTER; MIDFACE HYPOPLASIA; NUCLEOTIDE SEQUENCE; POR GENE; PRIORITY JOURNAL; RADIOHUMERAL SYNOSTOSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; STEROIDOGENESIS; SYNOSTOSIS;

ABNORMALITIES, MULTIPLE; ALLELES; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; EXONS; GENE FREQUENCY; GENES, RECESSIVE; GENOTYPE; HUMANS; MUTATION, MISSENSE; NADPH-FERRIHEMOPROTEIN REDUCTASE; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME; SYNOSTOSIS;

EID: 33644862230     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31112     Document Type: Letter

References (12)

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