A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency

Journal of Endocrinological Investigation

Volumn 32, Issue 8, 2009, Pages 653-658

  Carlomagno, Y ^a   Salerno, M ^b   Vivenza, D ^a   Capalbo, D ^b   Godi, M ^a   Mellone, S ^a   Tiradani, L ^a   Corneli, G ^a   Momigliano Richiardi, P ^a   Bona, G ^a   Giordano, M ^a  

^a UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

CPHD; In vitro splicing assay; POU1F1; Prolactin; Splicing mutation

Indexed keywords

GROWTH HORMONE; MESSENGER RNA; NUCLEOTIDE; PROLACTIN; THYROTROPIN; TRANSCRIPTION FACTOR PIT 1;

ARTICLE; CASE REPORT; CHILD; COMBINED PITUITARY HORMONE DEFICIENCY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE SEVERITY; EXON; FEMALE; GENE DELETION; GENE MUTATION; GROWTH DISORDER; GROWTH HORMONE DEFICIENCY; HETEROZYGOTE; HOMOZYGOSITY; HORMONE DEFICIENCY; HUMAN; LYMPHOCYTE; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PROTEIN DOMAIN; SCHOOL CHILD; STOP CODON;

CHILD; CONSANGUINITY; FEMALE; GENE DELETION; HUMAN GROWTH HORMONE; HUMANS; PEDIGREE; PITUITARY HORMONES; PROLACTIN; RNA SPLICING; TRANSCRIPTION FACTOR PIT-1;

EID: 72449176331     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.3275/6278     Document Type: Article

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