A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.

PloS one

Volumn 7, Issue 5, 2012, Pages

  Takagi, Masaki ^a   Ishii, Tomohiro ^b   Barnes, Aileen M ^b   Weis, Maryann ^b   Amano, Naoko ^b   Tanaka, Mamoru ^b   Fukuzawa, Ryuji ^b   Nishimura, Gen ^b   Eyre, David R ^b   Marini, Joan C ^b   Hasegawa, Tomonobu ^b  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 1; LEPRE1 PROTEIN, HUMAN; MEMBRANE PROTEIN; PROTEOGLYCAN;

ARTICLE; GENETICS; HUMAN; METABOLISM; MUTATION; OSTEOGENESIS IMPERFECTA; PROTEIN PROCESSING;

COLLAGEN TYPE I; HUMANS; MEMBRANE GLYCOPROTEINS; MUTATION; OSTEOGENESIS IMPERFECTA; PROTEIN PROCESSING, POST-TRANSLATIONAL; PROTEOGLYCANS;

EID: 84866144657     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0036809     Document Type: Article

References (0)