New growth hormone receptor exon 9 mutation causes genetic short stature

Acta Paediatrica, International Journal of Paediatrics, Supplement

Volumn 88, Issue 428, 1999, Pages 168-172

  Ayling, R M ^a   Ross, Rjm ^b   Towner, P ^a   Von Laue, S ^b   Finidori, J ^c   Moutoussamy, S ^c   Buchanan, C R ^a   Clayton, P E ^d   Norman, M R ^e,f  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF SHEFFIELD   (United Kingdom)

^c INSERM   (France)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

^e UNIVERSITY OF BRISTOL   (United Kingdom)

^f BRISTOL ROYAL INFIRMARY   (United Kingdom)

Author keywords

Dominant negative mutation; Growth hormone receptor

Indexed keywords

GROWTH HORMONE; GROWTH HORMONE RECEPTOR; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C;

BODY HEIGHT; CASE REPORT; CHILD; CONFERENCE PAPER; DIMERIZATION; DOMINANT INHERITANCE; EXON; FEMALE; GENE MUTATION; HORMONE BLOOD LEVEL; HORMONE RESISTANCE; HUMAN; INTERNALIZATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; RECEPTOR GENE; SHORT STATURE; SIGNAL TRANSDUCTION; SYNDROME;

EID: 0033015767     PISSN: 08035326     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (16)

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