Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta

American Journal of Human Genetics

Volumn 96, Issue 3, 2015, Pages 432-439

  Garbes, Lutz ^a   Kim, Kyungho ^b   Rieß, Angelika ^c   Hoyer Kuhn, Heike ^a   Beleggia, Filippo ^a   Bevot, Andrea ^d   Kim, Mi Jeong ^e   Huh, Yang Hoon ^e   Kweon, Hee Seok ^e   Savarirayan, Ravi ^f   Amor, David ^f   Kakadia, Purvi M ^g   Lindig, Tobias ^c   Kagan, Karl Oliver ^c   Becker, Jutta ^a   Boyadjiev, Simeon A ^b   Wollnik, Bernd ^a   Semler, Oliver ^a   Bohlander, Stefan K ^g   Kim, Jinoh ^b   Netzer, Christian ^a   more..

^a UNIVERSITY OF COLOGNE   (Germany)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^e Korea Basic Science Institute (KBSI)   (South Korea)

^f UNIVERSITY OF MELBOURNE   (Australia)

^g UNIVERSITY OF AUCKLAND   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

COAT PROTEIN COMPLEX II; GENOMIC DNA; PROCOLLAGEN; PROTEIN DISULFIDE ISOMERASE; SEC24D PROTEIN, HUMAN; VESICULAR TRANSPORT PROTEIN;

ALLELE; ARTICLE; CASE REPORT; CATARACT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DOWNWARD PALPEBRAL SLANT; ELECTRON MICROSCOPY; ENDOPLASMIC RETICULUM; EXOME; FACE MALFORMATION; FAMILY STUDY; FRONTAL BOSSING; GENE; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE MICROSCOPY; MACROCEPHALY; MALE; MICROGNATHIA; MISSENSE MUTATION; MUTANT; OSTEOGENESIS IMPERFECTA; PEDIGREE ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SEC24D GENE; SHORT STATURE; SKIN FIBROBLAST; SYNDROME; ANIMAL; BONE; CRANIOFACIAL SYNOSTOSIS; DNA SEQUENCE; EYE MALFORMATION; FEMALE; GENETICS; HETEROZYGOTE; HYDROCEPHALUS; METABOLISM; PATHOLOGY; PEDIGREE; PROTEIN CONFORMATION; ZEBRA FISH;

DANIO RERIO; ORYZIINAE;

ALLELES; ANIMALS; BONE AND BONES; CHILD; CRANIOSYNOSTOSES; ENDOPLASMIC RETICULUM; EYE ABNORMALITIES; FEMALE; HETEROZYGOTE; HUMANS; HYDROCEPHALUS; MALE; MUTATION, MISSENSE; OSTEOGENESIS IMPERFECTA; PEDIGREE; PHENOTYPE; PROTEIN CONFORMATION; SEQUENCE ANALYSIS, DNA; VESICULAR TRANSPORT PROTEINS; ZEBRAFISH;

EID: 84924259368     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.01.002     Document Type: Article

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