Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3

American Journal of Medical Genetics, Part A

Volumn 143, Issue 24, 2007, Pages 3150-3160

  Furniss, Dominic ^a,b   Critchley, Paul ^b   Giele, Henk ^b   Wilkie, Andrew O M ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

GLI3; Mutations; Nonsense mediated decay; Pathophysiology; Pyrosequencing; SALL1

Indexed keywords

MESSENGER RNA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GLI3; TRANSCRIPTION FACTOR SALL1; UNCLASSIFIED DRUG;

ALLELE; CONFERENCE PAPER; CONTROLLED STUDY; FEMALE; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; MALE; PATHOGENESIS; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PYROSEQUENCING; TOWNES BROCKS SYNDROME; WILD TYPE;

ALLELES; ANIMALS; CYCLOHEXIMIDE; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; HETEROZYGOTE; HUMANS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; LIMB DEFORMITIES, CONGENITAL; MALE; MICE; MODELS, GENETIC; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PROTEIN SYNTHESIS INHIBITORS; RNA, MESSENGER; TRANSCRIPTION FACTORS;

MAMMALIA;

EID: 37249007716     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32097     Document Type: Conference Paper

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