Your browser doesn't support javascript.
loading
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.
Joshi, Mugdha; Anselm, Irina; Shi, Jiahai; Bale, Tejus A; Towne, Meghan; Schmitz-Abe, Klaus; Crowley, Laura; Giani, Felix C; Kazerounian, Shideh; Markianos, Kyriacos; Lidov, Hart G; Folkerth, Rebecca; Sankaran, Vijay G; Agrawal, Pankaj B.
Affiliation
  • Joshi M; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;; Gene Discovery Core, Manton Center for Orphan Disease R
  • Anselm I; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;
  • Shi J; Whitehead Institute for Biomedical Research, MIT, Cambridge, Massachusetts 02142, USA;; Department of Biomedical Sciences, City University of Hong Kong, Hong Kong SAR, China;
  • Bale TA; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;
  • Towne M; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;; Gene Discovery Core, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;
  • Schmitz-Abe K; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;
  • Crowley L; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;; Gene Discovery Core, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;
  • Giani FC; Division of Hematology/Oncology, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Kazerounian S; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;
  • Markianos K; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;
  • Lidov HG; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;
  • Folkerth R; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;
  • Sankaran VG; Division of Hematology/Oncology, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;; Gene Discovery Core, Manton Center for Orphan Disease R
Cold Spring Harb Mol Case Stud ; 2(3): a000786, 2016 May.
Article in En | MEDLINE | ID: mdl-27148589
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Cold Spring Harb Mol Case Stud Year: 2016 Type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Cold Spring Harb Mol Case Stud Year: 2016 Type: Article