521. A <i>de novo</i> missense mutation of COL1A1 causes osteogenesis imperfecta type 2 and premature delivery in Normande Cattle-Reference-Cited by-同舟云学术

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521. A de novo missense mutation of COL1A1 causes osteogenesis imperfecta type 2 and premature delivery in Normande Cattle

Published:2022-12-31 Issue: Volume: Page:
ISSN:
Container-title:Proceedings of 12th World Congress on Genetics Applied to Livestock Production (WCGALP)
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Author:

Grohs C.¹,Corbeau J.²,Jourdain J.³,Boussaha M.¹,Plassard V.⁴,Barbat A.¹,Hamelin C.⁵,Mortier J.⁴,Boichard D.¹,Guatteo R.²,Capitan A.¹³

Affiliation:

1. Université Paris Saclay, INRAE, AgroParisTech, GABI, 78350, Jouy-en-Josas, France.

2. BioEpAR, INRAE, Oniris, CS, 40706 Nantes, France.

3. ALLICE, 75012 Paris, France.

4. Ecole Nationale Vétérinaire d’Alfort, Maisons-Alfort, France.

5. INNOVAL, 35538 Noyal sur Vilaine, France.

Publisher

Wageningen Academic Publishers

Link

https://www.wageningenacademic.com/doi/pdf/10.3920/978-90-8686-940-4_521

Reference12 articles.

1. DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum

2. Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes

3. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships

4. Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species

5. The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.

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