PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.
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| Title: | PTRH2 gene mutation causes progressive congenital skeletal muscle pathology. |
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| 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 |
| Database: | MEDLINE Ultimate |
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