The serum growth hormone (GH) response to provocative tests is dependent on type of assay in autosomal dominant isolated GH deficiency because of an ARG(183)HIS (R183H) GH-I gene mutation.
Marino
Roxana
R
Research Laboratory and Endocrinology Service, Garrahan Pediatric Hospital, Buenos Aires, Argentina 1245.
Chaler
Eduardo
E
Warman
Monica
M
Ciaccio
Marta
M
Berensztein
Esperanza
E
Rivarola
Marco A
MA
Belgorosky
Alicia
A
D002648:Child; D003000:Clonidine; D004393:Dwarfism, Pituitary / Q000097:blood / Q000235:genetics; D005260:Female; D015200:Fluoroimmunoassay; D019382:Human Growth Hormone / Q000097:blood* / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007118:Immunoassay; D007334:Insulin-Like Growth Factor I / Q000032:analysis; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D020033:Protein Isoforms
D020033:Protein Isoforms; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I; D003000:Clonidine