Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta-Reference-Cited by-同舟云学术

Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta

Published:2019-06-09 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Schwarze Ulrike¹,Cundy Tim²,Liu Yajuan J.¹^ORCID,Hofman Paul L.³,Byers Peter H.¹⁴^ORCID

Affiliation:

1. Department of PathologyUniversity of Washington Seattle Washington

2. Department of Medicine, Faculty of Medical & Health SciencesUniversity of Auckland New Zealand

3. Liggins Institute, Faculty of Medical & Health SciencesUniversity of Auckland New Zealand

4. Department of Medicine (Medical Genetics)University of Washington Seattle Washington

Funder

University of Washington

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61170

Reference35 articles.

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2. Recessively inherited forms of osteogenesis imperfecta;Byers P. H.;Annual Review of Genetics,2012

3. Y‐position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers‐Danlos syndrome phenotype;Cabral W. A.;Human Mutation,2007

4. A single recurrent mutation in the 5’‐UTR of IFITM5 causes osteogenesis imperfecta type V;Cho T. J.;American Journal of Human Genetics,2012

5. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta;Christiansen H. E.;American Journal of Human Genetics,2010

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