Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity

American Journal of Human Genetics

Volumn 69, Issue 3, 2001, Pages 641-646

  Metherell, Louise A ^a   Akker, Scott A ^a   Munroe, Patricia B ^a   Rose, Stephen J ^b   Caulfield, Mark ^a   Savage, Martin O ^a   Chew, Shern L ^a   Clark, Adrian J L ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b BIRMINGHAM HEARTLANDS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; GROWTH HORMONE RECEPTOR;

AMINO ACID SEQUENCE; ARTICLE; CONTROLLED STUDY; DIMERIZATION; ENDOCRINE DISEASE; EXON; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GROWTH HORMONE INSENSITIVITY; HUMAN; INTRON; MALE; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; SPLICEOSOME;

EID: 0034892609     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/323266     Document Type: Article

References (25)

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21. Clinical features and endocrine status in patients with growth hormone insensitivity (Laron syndrome)
22. Multiple splicing defects in an intronic false exon
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