The Japanese Journal of Human Genetics, volume 42, issue 4, pages 473-487

Mitochondrial disorders

Salvatore DiMauro ¹

Kurenai Tanji ¹

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Columbia University College of Physicians & Surgeons, New York, USA |

Publication type: Journal Article

Publication date: 1997-12-01

Springer Nature

Journal: The Japanese Journal of Human Genetics

SJR: —

CiteScore: —

Impact factor: —

ISSN: 00215074, 09168478

DOI: 10.1007/bf02767024

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PubMed ID: 9560947

Genetics (clinical)

Abstract

In this minireview, we attempt to survey the three main group of mitochondrial disorders, defects of nuclear DNA, defects of mitochondrial DNA, and defects of intergenomic signaling, with emphasis on recent contributions and pathogenetic mechanisms. In so doing, we have tried to point out some of the numerous unsolved problems in genotype/phenotype correlation and to indicate future directions of research.

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Springer Nature

Journal

The Japanese Journal of Human Genetics

SJR

—

CiteScore

—

Impact factor

—

ISSN

00215074 (Print)

09168478

Mitochondrial disorders

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