标题
Two mutations inIFITM5causing distinct forms of osteogenesis imperfecta
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 164, Issue 5, Pages 1136-1142
出版商
Wiley
发表日期
2014-01-30
DOI
10.1002/ajmg.a.36409
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
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- Mutations in WNT1 Cause Different Forms of Bone Fragility
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- A recurrent mutation in the 5′-UTR ofIFITM5causes osteogenesis imperfecta type V
- (2013) Masaki Takagi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations
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- Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by anIFITM5Mutation
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- Osteogenesis imperfecta without features of type V caused by a mutation in theIFITM5gene
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- Mutations in WNT1 are a cause of osteogenesis imperfecta
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- WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
- (2013) Christine M. Laine et al. NEW ENGLAND JOURNAL OF MEDICINE
- A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V
- (2012) Tae-Joon Cho et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish
- (2012) P.V. Asharani et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus
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- Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of theIFITM5c.−14C>T mutation in all patients
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- (2012) Ranad Shaheen et al. JOURNAL OF MEDICAL GENETICS
- Evolutionary Dynamics of the Interferon-Induced Transmembrane Gene Family in Vertebrates
- (2012) Zhao Zhang et al. PLoS One
- Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
- (2011) Jutta Becker et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
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- Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta
- (2010) Pablo Lapunzina et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
- (2010) Yasemin Alanay et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
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- PPIB Mutations Cause Severe Osteogenesis Imperfecta
- (2009) Fleur S. van Dijk et al. AMERICAN JOURNAL OF HUMAN GENETICS
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