# Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/exome-sequencing-identifies-truncating-mutations-in-human-serpinf1-in-autosomal/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Jutta Becker,Oliver Semler,Christian Gilissen,Yun Li,Hanno J. Bolz,Cecilia Giunta,Carsten Bergmann,Marianne Rohrbach,Friederike Koerber,Katharina Zimmermann,Petra de Vries,Brunhilde Wirth,Eckhard Schöenau,Bernd Wollnik,Joris A. Veltman,Alexander Hoischen,Christian Netzer |
| Citations | 361 |
| DOI | 10.1016/j.ajhg.2011.01.015 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929711000164/pdf |
| OpenAlex ID | https://openalex.org/W2100819070 |
| PMID | 21353196 |
| Type | article |
| Year | 2011 |

## Paper authors

- [Carsten Bergmann](https://scholariq.org/researchers/carsten-bergmann/)

## Paper primary topic

- [Connective tissue disorders research](https://scholariq.org/topics/connective-tissue-disorders-research/)

## Paper topics

- [Connective tissue disorders research](https://scholariq.org/topics/connective-tissue-disorders-research/)
- [Protease and Inhibitor Mechanisms](https://scholariq.org/topics/protease-and-inhibitor-mechanisms/)
- [Bone and Dental Protein Studies](https://scholariq.org/topics/bone-and-dental-protein-studies/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.