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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2008-8-4
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pubmed:abstractText |
Acid-labile subunit (ALS) deficiency due to homozygous inactivation of the ALS gene (IGFALS) is associated with moderate short stature, and in few cases pubertal delay. The clinical expression of heterozygosity is unknown.
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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 |
Aug
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pubmed:issn |
1479-683X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
159
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
113-20
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pubmed:meshHeading |
pubmed-meshheading:18463107-Adolescent,
pubmed-meshheading:18463107-Adult,
pubmed-meshheading:18463107-Carrier Proteins,
pubmed-meshheading:18463107-Child,
pubmed-meshheading:18463107-Child, Preschool,
pubmed-meshheading:18463107-Consanguinity,
pubmed-meshheading:18463107-Dwarfism,
pubmed-meshheading:18463107-Family,
pubmed-meshheading:18463107-Female,
pubmed-meshheading:18463107-Glycoproteins,
pubmed-meshheading:18463107-Heterozygote,
pubmed-meshheading:18463107-Homozygote,
pubmed-meshheading:18463107-Humans,
pubmed-meshheading:18463107-Male,
pubmed-meshheading:18463107-Microcephaly,
pubmed-meshheading:18463107-Middle Aged,
pubmed-meshheading:18463107-Mutation,
pubmed-meshheading:18463107-Pedigree,
pubmed-meshheading:18463107-Phenotype
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pubmed:year |
2008
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pubmed:articleTitle |
Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit.
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pubmed:affiliation |
Departments of Paediatrics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands. h.a.van_duyvenvoorde@lumc.nl
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pubmed:publicationType |
Journal Article,
Case Reports
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