Carpenter syndrome: Extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

Human Mutation

Volumn 32, Issue 4, 2011, Pages

  Jenkins, Dagan ^a   Baynam, Gareth ^b   De Catte, Luc ^c   Elcioglu, Nursel ^d   Gabbett, Michael T ^e   Hudgins, Louanne ^f   Hurst, Jane A ^g   Jehee, Fernanda Sarquis ^h   Oley, Christine ⁱ   Wilkie, Andrew O M ^a,g  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d MARMARA UNIVERSITY   (Turkey)

^e UNIVERSITY OF QUEENSLAND   (Australia)

^f STANFORD UNIVERSITY   (United States)

^g OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^h UNIVERSITY OF SÃO PAULO   (Brazil)

ⁱ BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Acrocephalopolysyndactyly syndrome; Nonsense mediated mRNA decay; RAB23; Switch domain

Indexed keywords

MESSENGER RNA; RAB PROTEIN; RAB23 PROTEIN; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ACROCEPHALOPOLYSYNDACTYLY TYPE 2; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIRTH WEIGHT; CLINICAL ARTICLE; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; EXON; FEMALE; GENE DELETION; GENITAL MALFORMATION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; INTRON; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN FUNCTION; SYNDACTYLY;

ABNORMALITIES, MULTIPLE; ACROCEPHALOSYNDACTYLIA; BASE SEQUENCE; CRANIOFACIAL DYSOSTOSIS; FEMALE; GENOTYPE; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NERVOUS SYSTEM MALFORMATIONS; PHENOTYPE; RAB GTP-BINDING PROTEINS; RNA STABILITY; SYNDROME;

EID: 79952763789     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21457     Document Type: Article

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