1996•Pediatric ResearchRequires access

Clinical Heterogeneity Associated with the Mitochondrial DNA T8993C Point Mutation

Filippo Maria Santorelli, Suk-Chun Mak, Marta Elisa Vázquez-Memije, Sara Shanske, Pamela Kranz‐Eble, Karen Jain, Daniel L. Bluestone, Darryl C. De Vivo, Salvatore DiMauro

Open publisher page 62 citations

Abstract

This record does not include an abstract. Use the full-text link above if available.

About this research paper

What this paper is about

An abstract is not available in the OpenAlex record for this paper.

Why it matters

OpenAlex reports 62 citations for this work. Citation counts describe recorded attention and do not establish research quality.

Key contribution

A contribution statement is not available in the OpenAlex record.

Method / approach

Method details are not available in the OpenAlex metadata.

Main findings

Findings are not separately available in the OpenAlex metadata.

Limitations

Limitations are not available in the OpenAlex metadata.

Applications

Application details are not available in the OpenAlex metadata.

Key concepts: Heteroplasmy, Point mutation, Mitochondrial DNA, Mutation, Polymerase chain reaction, Genetics, Biology, Molecular biology

Back to paper search Browse research topics Original source

Clinical Heterogeneity Associated with the Mitochondrial DNA T8993C Point Mutation — Research Paper | ScholarLens