Work

Impaired SERPINF1 Expression due to c.[‐ 37C >A];[829_831del] Causes Osteogenesis Imperfecta VI

Year: 2025

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmga.70020

Authors: Vaishnavi Ashok Badiger, Sheela Nampoothiri, Meher Mounika Vangara, Purvi Majethia, Katta M. Girisha, Periyasamy Radhakrishnan, Anju Shukla

Institutions: Manipal Academy of Higher Education, Kasturba Medical College, Manipal, Amrita Institute of Medical Sciences and Research Centre, Sultan Qaboos University, University of Basel, University Hospital of Basel

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: The Wellcome Trust DBT India Alliance

Award: Center for Rare Disease Diagnosis, Research and Training

OpenAlex ID: W4417150069

FWCI:

Cites: 15

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