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PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.
Doe, Jinger; Kaindl, Angela M; Jijiwa, Mayumi; de la Vega, Michelle; Hu, Hao; Griffiths, Genevieve S; Fontelonga, Tatiana M; Barraza, Pamela; Cruz, Vivian; Van Ry, Pam; Ramos, Joe W; Burkin, Dean J; Matter, Michelle L.
Affiliation
  • Doe J; Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA.
  • Kaindl AM; Institute of Cell Biology and Neurobiology.
  • Jijiwa M; Department of Pediatric Neurology, Charité -Universitätsmedizin, 13353 Berlin, Germany.
  • de la Vega M; The University of Hawaii Cancer Center, Honolulu, HI 96813, USA.
  • Hu H; The University of Hawaii Cancer Center, Honolulu, HI 96813, USA.
  • Griffiths GS; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
  • Fontelonga TM; The University of Hawaii Cancer Center, Honolulu, HI 96813, 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; Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA.
  • Burkin DJ; The University of Hawaii Cancer Center, Honolulu, HI 96813, USA.
  • Matter ML; Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA.
Hum Mol Genet ; 26(8): 1458-1464, 2017 04 15.
Article in En | MEDLINE | ID: mdl-28175314
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carboxylic Ester Hydrolases / Integrins / Muscle, Skeletal / Muscular Dystrophy, Duchenne / Mitochondrial Proteins Type of study: Etiology_studies Limits: Animals / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2017 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carboxylic Ester Hydrolases / Integrins / Muscle, Skeletal / Muscular Dystrophy, Duchenne / Mitochondrial Proteins Type of study: Etiology_studies Limits: Animals / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2017 Type: Article Affiliation country: United States