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8364546
Source:
http://linkedlifedata.com/resource/pubmed/id/8364546
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0017337
,
umls-concept:C0019904
,
umls-concept:C0030705
,
umls-concept:C0031456
,
umls-concept:C0205314
,
umls-concept:C0240620
,
umls-concept:C0425375
,
umls-concept:C0599155
,
umls-concept:C0679622
,
umls-concept:C2676533
pubmed:issue
7
pubmed:dateCreated
1993-10-4
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/9208958
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/DNA
,
http://linkedlifedata.com/resource/pubmed/chemical/Phenylalanine
,
http://linkedlifedata.com/resource/pubmed/chemical/Phenylalanine Hydroxylase
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0964-6906
pubmed:author
pubmed-author:GüttlerFF
,
pubmed-author:GuldbergPP
,
pubmed-author:HenriksenK FKF
,
pubmed-author:Holak
,
pubmed-author:LouH CHC
,
pubmed-author:MikkelsenII
,
pubmed-author:OlsenBB
pubmed:issnType
Print
pubmed:volume
2
pubmed:geneSymbol
PAH
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1061-2
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:8364546-Amino Acid Metabolism, Inborn Errors
,
pubmed-meshheading:8364546-Base Sequence
,
pubmed-meshheading:8364546-Consanguinity
,
pubmed-meshheading:8364546-DNA
,
pubmed-meshheading:8364546-Exons
,
pubmed-meshheading:8364546-Female
,
pubmed-meshheading:8364546-Homozygote
,
pubmed-meshheading:8364546-Humans
,
pubmed-meshheading:8364546-Infant
,
pubmed-meshheading:8364546-Male
,
pubmed-meshheading:8364546-Molecular Sequence Data
,
pubmed-meshheading:8364546-Pedigree
,
pubmed-meshheading:8364546-Phenylalanine
,
pubmed-meshheading:8364546-Phenylalanine Hydroxylase
,
pubmed-meshheading:8364546-Point Mutation
pubmed:year
1993
pubmed:articleTitle
A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia.
pubmed:affiliation
Danish Center for Human Genome Research, John F. Kennedy Institute, Glostrup, Denmark.
pubmed:publicationType
Journal Article
,
Case Reports
,
Research Support, Non-U.S. Gov't