Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage

Human Molecular Genetics

Volumn 12, Issue 3, 2003, Pages 217-225

  Bateman, John F ^a   Freddi, Susanna ^a   Nattrass, Gary ^b   Savarirayan, Ravi ^a,b  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 10; MESSENGER RNA;

ALLELE; CARTILAGE CELL; CARTILAGE DEGENERATION; CASE REPORT; CHONDRODYSPLASIA; CONTROLLED STUDY; GENE EXPRESSION; GROWTH PLATE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPERTROPHY; IN VITRO STUDY; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; RNA ANALYSIS; RNA SPLICING; RNA TRANSLATION; SCHMID METAPHYSEAL CHONDROPLASIA; SCHOOL CHILD; TISSUE SPECIFICITY; TRANSLATION REGULATION;

CARTILAGE; CARTILAGE DISEASES; CHILD; CODON, NONSENSE; COLLAGEN TYPE X; DNA MUTATIONAL ANALYSIS; HUMANS; OSTEOCYTES; PELVIC BONES; RNA STABILITY; RNA, MESSENGER;

MAMMALIA;

EID: 0037320770     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg054     Document Type: Review

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