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Clinical, biochemical, cellular and molecular characterizat..:

Uusimaa, Johanna ; Evans, Julie ; Smith, Conrad...
Uusimaa , J , Evans , J , Smith , C , Butterworth , A , Craig , K , Ashley , N , Liao , C , Carver , J , Diot , A , Macleod , L , Hargreaves , I , Al-Hussaini , A , Faqeih , E , Asery , A , Al Balwi , M , Eyaid , W , Al-Sunaid , A , Kelly , D , van Mourik , I , Ball , S , Jarvis , J , Mulay , A , Hadzic , N , Samyn , M , Baker , A , Rahman , S , Stewart , H , Morris , A A M , Seller , A , Fratter , C , Taylor , R W & Poulton , J 2014 , ' Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene ' , European Journal of Human Genetics , vol. 22 , no. 2 , pp. 184-191 . https://doi.org/10.1038/ejhg.2013.112. , 2014

Link: https://kclpure.kcl.ac.uk/portal/en/publications/clini..

RT Journal
T1 <Title>Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftkingscollondon:oai:pure.atira.dk:publications_11ce96cd-e0d3-4a46-a570-203584737cc0&Exemplar=1&LAN=DE
				
A1 Uusimaa, Johanna
A1 Evans, Julie
A1 Smith, Conrad
A1 Butterworth, Anna
A1 Craig, Kate
A1 Ashley, Neil
A1 Liao, Chunyan
A1 Carver, Janet
A1 Diot, Alan
A1 Macleod, Lorna
A1 Hargreaves, Iain
A1 Al-Hussaini, Abdulrahman
A1 Faqeih, Eissa
A1 Asery, Ali
A1 Al Balwi, Mohammed
A1 Eyaid, Wafaa
A1 Al-Sunaid, Areej
A1 Kelly, Deirdre
A1 van Mourik, Indra
A1 Ball, Sarah
A1 Jarvis, Joanna
A1 Mulay, Arundhati
A1 Hadzic, Nedim
A1 Samyn, Marianne
A1 Baker, Alastair
A1 Rahman, Shamima
A1 Stewart, Helen
A1 Morris, Andrew A. M
A1 Seller, Anneke
A1 Fratter, Carl
A1 Taylor, Robert W
A1 Poulton, Joanna
YR 2014
K1 MPV17
K1 mitochondrial DNA depletion
K1 hepatocerebral disease
K1 neonatal liver disease
K1 HEPATOCEREBRAL FORM
K1 MTDNA DEPLETION
K1 MUSCLE
K1 NEUROPATHY
K1 DIAGNOSIS
K1 DELETIONS
K1 FEATURES
JF Uusimaa , J , Evans , J , Smith , C , Butterworth , A , Craig , K , Ashley , N , Liao , C , Carver , J , Diot , A , Macleod , L , Hargreaves , I , Al-Hussaini , A , Faqeih , E , Asery , A , Al Balwi , M , Eyaid , W , Al-Sunaid , A , Kelly , D , van Mourik , I , Ball , S , Jarvis , J , Mulay , A , Hadzic , N , Samyn , M , Baker , A , Rahman , S , Stewart , H , Morris , A A M , Seller , A , Fratter , C , Taylor , R W & Poulton , J 2014 , ' Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene ' , European Journal of Human Genetics , vol. 22 , no. 2 , pp. 184-191 . https://doi.org/10.1038/ejhg.2013.112
LK http://dx.doi.org/https://kclpure.kcl.ac.uk/portal/en/publications/clinical-biochemical-cellular-and-molecular-characterization-of-mitochondrial-dna-depletion-syndrome-due-to-novel-mutations-in-the-mpv17-gene(11ce96cd-e0d3-4a46-a570-203584737cc0).html
DO https://kclpure.kcl.ac.uk/portal/en/publications/clinical-biochemical-cellular-and-molecular-characterization-of-mitochondrial-dna-depletion-syndrome-due-to-novel-mutations-in-the-mpv17-gene(11ce96cd-e0d3-4a46-a570-203584737cc0).html
SF ELIB - SuUB Bremen

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