Work

Intrafamilial variability in Diamond-Blackfan anemia with a novel canonical splice-site variant in the RPL11 gene

Year: 2025

Type: article

Study design: Case Report

Source: Laboratory Medicine

DOI: 10.1093/labmed/lmaf040

Authors: Boram Kim, Hyun-Young Kim, Hyun-Young Kim, Suhyeon Woo, Keon Hee Yoo, Hee-Jin Kim, Hee-Jin Kim

Institutions: Samsung Medical Center, Sungkyunkwan University

Language: English

Topic: Blood disorders and treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4412688279

FWCI:

Cites: 15

Cited by:

Related to: 10