Work

Impact of genomics on the identification and family characterization of genetic diseases collagen

Year: 2024

Type: article

Abstract: Osteogenesis Imperfecta (OI) is a genetic disorder primarily resulting from pathogenic variants in the COL1A1 or COL1A2 genes, responsible for collagen synthesis.

Source: Annals of Case Reports and Medical Images

DOI: 10.52768/3065-7849/1001

Authors: Resident of the Specialization in Pediatrics, Universidad Libre sectional Cali, Colombia., Stephanie Paz Ramirez

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: bronze

OpenAlex ID: W4412817605

FWCI:

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Related to: 10