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rdf:type |
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lifeskim:mentions |
umls-concept:C0007634,
umls-concept:C0026882,
umls-concept:C0034897,
umls-concept:C0037081,
umls-concept:C0040715,
umls-concept:C0271563,
umls-concept:C0599718,
umls-concept:C0599813,
umls-concept:C0599893,
umls-concept:C0699040,
umls-concept:C1415064,
umls-concept:C1522702
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pubmed:issue |
10
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|
pubmed:dateCreated |
2009-10-7
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pubmed:abstractText |
Mutations in the GHRH receptor (GHRHR) have been detected in the familial type-IB isolated GH deficiency (IGHD-IB) inherited as an autosomal recessive disorder and characterized by a low but detectable serum GH level and good response to substitutive GH therapy.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
|
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1945-7197
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pubmed:author |
pubmed-author:ArrigoTeresaT,
pubmed-author:BardelliClaudioC,
pubmed-author:BelloneSimonettaS,
pubmed-author:BonaGianniG,
pubmed-author:CorradoLuciaL,
pubmed-author:GiordanoMaraM,
pubmed-author:GodiMichelaM,
pubmed-author:MelloneSimonaS,
pubmed-author:Momigliano-RichiardiPatriciaP,
pubmed-author:PetriAntonellaA,
pubmed-author:ProdamFlaviaF
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pubmed:issnType |
Electronic
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pubmed:volume |
94
|
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pubmed:owner |
NLM
|
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pubmed:authorsComplete |
Y
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pubmed:pagination |
3939-47
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pubmed:meshHeading |
pubmed-meshheading:19622623-Adult,
pubmed-meshheading:19622623-Blotting, Western,
pubmed-meshheading:19622623-Body Height,
pubmed-meshheading:19622623-Case-Control Studies,
pubmed-meshheading:19622623-Chromatography, High Pressure Liquid,
pubmed-meshheading:19622623-Chromosome Aberrations,
pubmed-meshheading:19622623-Female,
pubmed-meshheading:19622623-Fluorescent Antibody Technique,
pubmed-meshheading:19622623-Genes, Recessive,
pubmed-meshheading:19622623-Genetic Variation,
pubmed-meshheading:19622623-Genotype,
pubmed-meshheading:19622623-Glycine,
pubmed-meshheading:19622623-Heterozygote,
pubmed-meshheading:19622623-Human Growth Hormone,
pubmed-meshheading:19622623-Humans,
pubmed-meshheading:19622623-Italy,
pubmed-meshheading:19622623-Male,
pubmed-meshheading:19622623-Middle Aged,
pubmed-meshheading:19622623-Mutation, Missense,
pubmed-meshheading:19622623-Pedigree,
pubmed-meshheading:19622623-Plasmids,
pubmed-meshheading:19622623-RNA, Messenger,
pubmed-meshheading:19622623-Receptors, Neuropeptide,
pubmed-meshheading:19622623-Receptors, Pituitary Hormone-Regulating Hormone,
pubmed-meshheading:19622623-Transfection,
pubmed-meshheading:19622623-Valine
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pubmed:year |
2009
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|
pubmed:articleTitle |
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.
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pubmed:affiliation |
Laboratory of Human Genetics, Department of Medical Sciences and Interdisciplinary Research Center of Autoimmune Diseases, University of Eastern Piedmont, 28100 Novara, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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