reference/7095502

http://rdf.ncbi.nlm.nih.gov/pubchem/reference/7095502

Outgoing Links

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endingPage	136
issn	1098-1004 1059-7794
issueIdentifier	2
pageRange	136-136
publicationName	Human Mutation
startingPage	136
bibliographicCitation	Guazzini B, Gaffi D, Mainieri D, Multari G, Cordera R, Bertolini S, Pozza G, Meschi F, Barbetti F. Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online. Hum Mutat. 1998;12(2):136. doi: 10.1002/(sici)1098-1004(1998)12:2<136::aid-humu11>3.0.co;2-0. PMID: 10694920.
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date	1998
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language	English
source	https://www.crossref.org/ https://pubmed.ncbi.nlm.nih.gov/
title	A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online
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