Work

Clinical Heterogeneity Associated with the Mitochondrial DNA T8993C Point Mutation

Year: 1996

Type: article

Study design: Case Report

Source: Pediatric Research

DOI: 10.1203/00006450-199605000-00028

Authors: Filippo M Santorelli, Suk-Chun Mak, Marta E Vazquez-Memije, Sara Shanske, Pamela Kranz-Eble, Karen D Jain, Daniel L Bluestone, Darryl C De Vivo, Salvatore Dimauro

Institutions: Columbia University Irving Medical Center, Columbia University, Children's Hospital Los Angeles, University of California, San Francisco

Language: English

Topic: Mitochondrial Function and Pathology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: Mitochondrial Encephalomyopathies and Mental Retardation, G74925636

OpenAlex ID: W2067806325

FWCI: 2.528

Cites: 12

Cited by: 62

Related to: 10