A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency.

Hormones (Athens, Greece)

Volumn 5, Issue 4, 2006, Pages 288-294

  Fofanova, Olga V ^a   Evgrafov, Oleg V ^a   Polyakov, Alexander V ^a   Peterkova, Valentina A ^a   Dedov, Ivan I ^a  

^a INSTITUTE OF BIOMEDICAL CHEMISTRY   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GROWTH HORMONE; RNA;

ARTICLE; CASE REPORT; EXON; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; MALE; MUTATION; PEDIGREE; PITUITARY DWARFISM; PRESCHOOL CHILD; RNA SPLICING;

CHILD, PRESCHOOL; DNA; DWARFISM, PITUITARY; EXONS; FEMALE; GROWTH HORMONE; HETEROZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; RNA; RNA SPLICE SITES;

EID: 39049192598     PISSN: 11093099     EISSN: None     Source Type: Journal    
DOI: 10.14310/horm.2002.11194     Document Type: Article

References (0)