Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood Journal Articles Refereed uri icon

Overview

Authors

  • Authorship

    • VOEGTLE F-N
    • JAEHN JA
    • KEMINER O
    • HELBIG KL
    • DELTO CF
    • MYKETIN L
    • MOSSMANN D
    • BURGER N
    • MIYAKE N
    • BURNETT A
    • VAN BAALEN A
    • BRAENDL B
    • LOVELL MA
    • MATSUMOTO N
    • WALSH M
    • YU H-C
    • SHINDE DN
    • STEPHANI U
    • VAN HOVE JLK
    • MUELLER F-J
    • HELBIG I
    • LARSON A
    • PENDZIWIAT M
    • FRIEDERICH MW
    • A/PROF Susan White
    • BASINGER A
    • KUECUEKKOESE C
    • MUHLE H

Published in

  • American Journal of Human Genetics

Time

Date/time value

  • 2018

Identity

Digital Object Identifier (DOI)

  • 10.1016/j.ajhg.2018.02.014

Additional Document Info

Parent Title

  • AMERICAN JOURNAL OF HUMAN GENETICS

Volume

  • 102

Issue

  • 4

Publisher

  • University of Chicago Press