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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2003-1-21
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pubmed:abstractText |
Mutations in the GH-releasing hormone (GHRH) receptor (GHRHR) gene (GHRHR) cause autosomal recessive familial isolated GH deficiency (IGHD). We searched for GHRHR mutations in two siblings with IGHD type IB and a history of parental consanguinity.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0804-4643
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
148
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
25-30
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:12534354-Child,
pubmed-meshheading:12534354-DNA Mutational Analysis,
pubmed-meshheading:12534354-Family Health,
pubmed-meshheading:12534354-Female,
pubmed-meshheading:12534354-Gene Expression,
pubmed-meshheading:12534354-Human Growth Hormone,
pubmed-meshheading:12534354-Humans,
pubmed-meshheading:12534354-Male,
pubmed-meshheading:12534354-Mutation, Missense,
pubmed-meshheading:12534354-Pedigree,
pubmed-meshheading:12534354-Receptors, Neuropeptide,
pubmed-meshheading:12534354-Receptors, Pituitary Hormone-Regulating Hormone,
pubmed-meshheading:12534354-Siblings
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pubmed:year |
2003
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pubmed:articleTitle |
A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency.
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pubmed:affiliation |
Divisions of Pediatric Endocrinology and Endocrinology and The Ilyssa Center for Molecular and Cellular Endocrinology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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