Work

A Homozygous Telomerase Reverse Transcriptase T Motif Variant Resulting in Markedly Reduced Telomerase Repeat Addition Processivity in Siblings with Hoyeraal Hreidarsson Syndrome

Year: 2012

Type: article

Study design: Case Report

Source: Blood

DOI: 10.1182/blood.v120.21.1272.1272

Authors: M. Monica Gramatges, Xiaodong Qi, Ghadir S. Sasa, Julian J-L Chen, Alison A. Bertuch

Institutions: Baylor College of Medicine, Texas Children's Hospital, Arizona State University

Language: English

Topic: Telomeres, Telomerase, and Senescence

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2558824231

FWCI:

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Related to: 10