Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia

Journal of Medical Genetics

Volumn 51, Issue 7, 2014, Pages 470-474

  Smith, Amanda C ^a   Mears, Alan J ^a   Bunker, Ryan ^a   Ahmed, Afsana ^a   MacKenzie, Malcolm ^a   Schwartzentruber, Jeremy A ^b   Beaulieu, Chandree L ^a   Ferretti, Emanuela ^a   Majewski, Jacek ^b   Bulman, Dennis E ^a   Celik, Fatma Cakmak ^c   Boycott, Kym M ^a   Graham, Gail E ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c Samsun Maternity and Child Health Hospital   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PHOSPHOLIPID HYDROPEROXIDE GLUTATHIONE PEROXIDASE; GLUTATHIONE PEROXIDASE; PHOSPHOLIPID-HYDROPEROXIDE GLUTATHIONE PEROXIDASE; STOP CODON;

APNEA; ARTICLE; ATRIOVENTRICULAR BLOCK; BONE DYSPLASIA; CASE REPORT; CONTROLLED STUDY; DISEASE COURSE; EMBRYO; EXOME; EXON SKIPPING; EXTRACHROMOSOMAL INHERITANCE; FACE DYSMORPHIA; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSFECTION; GENETIC VARIABILITY; HEART ARRHYTHMIA; HETEROZYGOTE; HUMAN; HUMAN CELL; HYPOPLASIA; ILIAC BONE; ILIAC CREST; IN VITRO STUDY; INFANT; LUMBAR VERTEBRA; MALE; METAPHYSIS; MUSCLE HYPOTONIA; MUSCULOSKELETAL SYSTEM MALFORMATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SEDAGHATIAN TYPE SPONDYLOMETAPHYSEAL DYSPLASIA; SKIN FIBROBLAST; THORACIC SPINE; THORAX MALFORMATION; VERTEBRA MALFORMATION; AMINO ACID SEQUENCE; CHONDRODYSPLASIA; CONSANGUINITY; ENZYMOLOGY; FATALITY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; HEK293 CELL LINE; MOLECULAR GENETICS; NEWBORN; PEDIGREE; RADIOGRAPHY; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON;

AMINO ACID SEQUENCE; BASE SEQUENCE; CODON, NONSENSE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; FRAMESHIFT MUTATION; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GLUTATHIONE PEROXIDASE; HEK293 CELLS; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; OSTEOCHONDRODYSPLASIAS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84902545867     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-102218     Document Type: Article

References (22)

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