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Molecular heterogeneity in osteogenesis imperfecta type I
M. C. Willing
, C. J. Pruchno
, P. H. Byers
Division of Genetics and Genomic Medicine
Research output
:
Contribution to journal
›
Article
›
peer-review
38
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Scopus citations
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Dive into the research topics of 'Molecular heterogeneity in osteogenesis imperfecta type I'. Together they form a unique fingerprint.
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Keyphrases
COL1A1
100%
Molecular Heterogeneity
100%
Osteogenesis Imperfecta Type I
100%
Type I Collagen
60%
Dermal Fibroblasts
40%
COL1A2
40%
COL1A1 Gene
40%
MRNA Level
20%
Deformity
20%
Point mutation
20%
Genomic DNA (gDNA)
20%
3' End
20%
Complementary DNA (cDNA)
20%
Proline
20%
Coding Region
20%
Osteopenia
20%
Copy number
20%
Carboxyl
20%
Splicing mutation
20%
Autosomal Recessive Inheritance
20%
Propeptide
20%
Osteogenesis Imperfecta
20%
All-affected
20%
Short Pulse
20%
Slot-blot Hybridization
20%
Small Deletion
20%
Pulse Labeling
20%
Reading Frame
20%
Chemical Cleavage
20%
Blue Sclera
20%
I.Family
20%
Bone Fragility
20%
Exon Deletion
20%
Restriction Endonuclease Analysis
20%
Biochemistry, Genetics and Molecular Biology
Bone Development
100%
Type I Collagen
60%
COL1A2
40%
Messenger RNA
40%
Fibroblast
40%
C-Terminus
20%
Allele
20%
Autosomal Dominant Inheritance
20%
Promoter Region
20%
Point Mutation
20%
Exon
20%
Coding Region
20%
Body Height
20%
Restriction Map
20%
Slot Blot Hybridization
20%
Reading Frame
20%
Pulse Labelling
20%
Genomics
20%
Proline
20%