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PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.

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Title: PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.
Authors: Doe J; Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA., Kaindl AM; Institute of Cell Biology and Neurobiology.; Department of Pediatric Neurology, Charité -Universitätsmedizin, 13353 Berlin, Germany., Jijiwa M; The University of Hawaii Cancer Center, Honolulu, HI 96813, USA., de la Vega M; The University of Hawaii Cancer Center, Honolulu, HI 96813, USA., Hu H; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Griffiths GS; The University of Hawaii Cancer Center, Honolulu, HI 96813, USA., Fontelonga TM; Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA., Barraza P; Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA., Cruz V; Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA., Van Ry P; Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA., Ramos JW; The University of Hawaii Cancer Center, Honolulu, HI 96813, USA., Burkin DJ; Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA., Matter ML; The University of Hawaii Cancer Center, Honolulu, HI 96813, USA.
Source: Human molecular genetics [Hum Mol Genet] 2017 Apr 15; Vol. 26 (8), pp. 1458-1464.
Publication Type: Journal Article
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
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  Data: PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.
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  Data: <searchLink fieldCode="AU" term="%22Doe+J%22">Doe J</searchLink>; Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA.<br /><searchLink fieldCode="AU" term="%22Kaindl+AM%22">Kaindl AM</searchLink>; Institute of Cell Biology and Neurobiology.; Department of Pediatric Neurology, Charité -Universitätsmedizin, 13353 Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Jijiwa+M%22">Jijiwa M</searchLink>; The University of Hawaii Cancer Center, Honolulu, HI 96813, USA.<br /><searchLink fieldCode="AU" term="%22de+la+Vega+M%22">de la Vega M</searchLink>; The University of Hawaii Cancer Center, Honolulu, HI 96813, USA.<br /><searchLink fieldCode="AU" term="%22Hu+H%22">Hu H</searchLink>; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Griffiths+GS%22">Griffiths GS</searchLink>; The University of Hawaii Cancer Center, Honolulu, HI 96813, USA.<br /><searchLink fieldCode="AU" term="%22Fontelonga+TM%22">Fontelonga TM</searchLink>; Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA.<br /><searchLink fieldCode="AU" term="%22Barraza+P%22">Barraza P</searchLink>; Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA.<br /><searchLink fieldCode="AU" term="%22Cruz+V%22">Cruz V</searchLink>; Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA.<br /><searchLink fieldCode="AU" term="%22Van+Ry+P%22">Van Ry P</searchLink>; Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA.<br /><searchLink fieldCode="AU" term="%22Ramos+JW%22">Ramos JW</searchLink>; The University of Hawaii Cancer Center, Honolulu, HI 96813, USA.<br /><searchLink fieldCode="AU" term="%22Burkin+DJ%22">Burkin DJ</searchLink>; Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA.<br /><searchLink fieldCode="AU" term="%22Matter+ML%22">Matter ML</searchLink>; The University of Hawaii Cancer Center, Honolulu, HI 96813, USA.
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  Data: <searchLink fieldCode="JN" term="%229208958%22">Human molecular genetics</searchLink> [Hum Mol Genet] 2017 Apr 15; Vol. 26 (8), pp. 1458-1464.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22IRL+Press+at+Oxford+University+Press%22">IRL Press at Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9208958 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2083 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209646906%22">09646906 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mol Genet <i>Subsets: </i>MEDLINE
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              Text: 2017 Apr 15
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