A homozygous nonsense mutation of the human growth hormone receptor gene in a Sardinian boy with Laron-type dwarfism

Journal of Endocrinological Investigation

Volumn 20, Issue 5, 1997, Pages 286-288

  Putzolu, M ^a   Meloni, A ^a   Loche, S ^b   Pischedda, C ^a   Cao, A ^a   Moi, P ^a,b  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b Osp Regionale per le Microcitemie   (Italy)

Author keywords

Dwarfism; Genetics; Growth hormone; Growth hormone receptor

Indexed keywords

GROWTH HORMONE BINDING PROTEIN; GROWTH HORMONE RECEPTOR;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DWARFISM; EXON; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN CELL; INFANT; LARON SYNDROME; MALE; NONSENSE MUTATION; PROTEIN BLOOD LEVEL; RNA TRANSLATION;

EID: 0030837896     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03350302     Document Type: Article

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