Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity

European Journal of Endocrinology

Volumn 162, Issue 1, 2010, Pages 37-42

  David, A ^a   Miraki Moud, F ^a   Shaw, N J ^b   Savage, M O ^a   Clark, A J L ^a   Metherell, L A ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; GROWTH HORMONE RECEPTOR; MESSENGER RNA; MUTANT PROTEIN; PHOSPHORUS 32; POLYPYRIMIDINE TRACT BINDING PROTEIN; HUMAN GROWTH HORMONE; MEMBRANE PROTEIN;

ARTICLE; COMPUTER MODEL; CONTROLLED STUDY; DISEASE SEVERITY; EXON; GENETIC ANALYSIS; GENETIC TRANSFECTION; GROWTH HORMONE INSENSITIVITY; HOMOZYGOSITY; HORMONE DETERMINATION; HORMONE RESISTANCE; HUMAN; HUMAN CELL; IN VITRO STUDY; INCUBATION TIME; INTRON; PRIORITY JOURNAL; REPORTER GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SIGNAL TRANSDUCTION; CASE REPORT; CELL LINE; COMPARATIVE STUDY; GENETICS; HELA CELL; INFANT; LARON SYNDROME; MALE; METABOLISM; MUTATION; PROTEIN TERTIARY STRUCTURE;

CELL LINE; EXONS; HELA CELLS; HUMAN GROWTH HORMONE; HUMANS; INFANT; INTRONS; LARON SYNDROME; MALE; MEMBRANE PROTEINS; MUTATION; POLYPYRIMIDINE TRACT-BINDING PROTEIN; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, SOMATOTROPIN; RNA SPLICING; RNA, MESSENGER; SIGNAL TRANSDUCTION;

EID: 73949094341     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-09-0583     Document Type: Article

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