A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 3, 2006, Pages 980-986

  Vivenza, Daniela ^a   Guazzarotti, Laura ^b   Godi, Michela ^a   Frasca, Daniela ^b   Di Natale, Berardo ^b   Momigliano Richiardi, Patricia ^a   Bona, Gianni ^a   Giordano, Mara ^a,c  

^a UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c Amedeo Avogadro University   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GROWTH HORMONE; MESSENGER RNA;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; EXON; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GH1 GENE; GROWTH DISORDER; GROWTH HORMONE DEFICIENCY; HUMAN; HYPOPHYSIS CELL; ISOLATED GROWTH HORMONE DEFICIENCY TYPE II; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING;

BASE SEQUENCE; CHILD, PRESCHOOL; EXONS; FEMALE; GENES, DOMINANT; HUMAN GROWTH HORMONE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MOTHERS; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 33644825661     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2005-1703     Document Type: Article

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