A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta-Reference-Cited by-同舟云学术

A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta

Published:2012-05-15 Issue:5 Volume:7 Page:e36809
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

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

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference28 articles.

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3. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.;J Körkkö;Am J Hum Genet,1998

4. New perspectives on osteogenesis imperfecta.;A Forlino;Nat Rev Endocrinol,2011

5. Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.;EM Thompson;J Med Genet,1987

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