About: Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

article

Attributes	Values
rdf:type	Item
description	article (en) հոդված (hy) wetenschappelijk artikel (nl) наукова стаття, опублікована в 1996 (uk) article scientifique publié en 1996 (fr) im Jahr 1996 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q58924004-17690F78-87F8-4638-86EA-FFB7F526450A wds:Q58924004-2BA0862E-43AD-4F90-B8E3-F1F87C9F4763
publication date	1996-01-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q58924004-0226E3C6-44D6-4CD2-8211-352A9001E96F wds:Q58924004-316723DE-46A2-454A-8A97-2D0D2329BDA8 wds:Q58924004-8FF3386A-CD14-4EFF-B09A-478E041DE173 wds:Q58924004-B8CFF90F-57D5-4674-8720-ADB462674A16 wds:Q58924004-CCFF10C5-662D-4582-BCE0-D8B877DA877F wds:Q58924004-CED6CE10-EDAE-459F-8BA1-84739C629051 wds:Q58924004-E35660FE-F0F8-4C38-B68A-7161E54D5558 wds:Q58924004-E491996F-29E2-4E03-9417-4C929C431CD3 wds:Q58924004-FE84F9F5-BB40-489A-8AD6-8D7F43F075F0
author name string	B Dallapiccola Giuseppe Novelli Paolino Ninfali Mauro Magnani M Magnani Federica Sangiuolo Juergen K.V. Reichardt P Maceratesi Patrizia Maceratesi
rdfs:label	Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency (en) Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency (nl)
skos:prefLabel	Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency (en) Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency (nl)
name	Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency (en) Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency (nl)
author	wds:Q58924004-386C63C6-15B9-4EE2-A69A-57EA800CED10 wds:Q58924004-82746E2C-5186-4DC0-96EE-ECABBC8D30AB wds:Q58924004-AE6A949A-E99C-4AD9-9086-E5B5E678B951 wds:Q58924004-F174BF75-F1F4-47CF-9830-45D56E49FA5A wds:Q58924004-F5128543-B63C-470E-ABF9-20677D494332
author	Giuseppe Novelli Bruno Dallapiccola Juergen Reichardt Paolino Ninfali Federica Sangiuolo
title	wds:Q58924004-C2787908-B83D-455E-A4CC-129363F82B0D
title	Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency (en)
page(s)	wds:Q58924004-00393581-CF75-411D-A4D8-EE2740A821C3
page(s)	369-372
instance of	wds:Q58924004-0D007A06-77A4-4D88-950B-79E3A08F55E9
instance of	scholarly article
PubMed ID	wds:Q58924004-42408738-611F-4F51-B956-4BA76CD07B1F
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/8956044
PubMed ID	8956044
published in	wds:Q58924004-F185E460-470E-4600-BC55-AE64CD20DC40
published in	Human Mutation
issue	wds:Q58924004-C6A6EA55-E745-4216-9EF6-22561259C755
volume	wds:Q58924004-41F7F1C6-F9BC-4C69-B5EE-E6211ED4F768
issue	4
volume	8
DOI	wds:Q58924004-E181515A-3E7B-48A4-B533-BC0CE89B3450
DOI	http://dx.doi.org/10.1002/(SICI)1098-1004(1996)8:4%3C369::AID-HUMU12%3E3.0.CO;2-0
DOI	10.1002/(SICI)1098-1004(1996)8:4<369::AID-HUMU12>3.0.CO;2-0
is owl:sameAs of	Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q58924004
is cites work of	Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22 The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L). Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study
is cites work of	wds:Q34389995-DD55B295-8885-471E-AA2C-EF3756BE4B23 wds:Q41737719-90B371E9-48DC-431B-BCA6-1018C15B35FA wds:Q93148715-DFED452B-E4CA-4FCE-9469-D32F6A12A853 wds:Q34463883-8F8A2DFB-900C-4337-B2CA-AB59E84A011C

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 172 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software