Normal variants of human mitochondrial DNA and translation products: the building of a reference data base

S. Marzuki; A. S. Noer; P. Lertrit; D. Thyagarajan; R. Kapsa; P. Utthanaphol; E. Byrne

doi:10.1007/BF00206061

Normal variants of human mitochondrial DNA and translation products: the building of a reference data base

S. Marzuki
, A. S. Noer
, P. Lertrit
, D. Thyagarajan
, R. Kapsa
, P. Utthanaphol
, E. Byrne

Monash University
University of Meiboume

Research output: Contribution to journal › Article › peer-review

91 Citations (Scopus)

Abstract

A good standard reference for the highly polymorphic human mitochondrial DNA (mtDNA) sequence is essential for studies of normal and disease-related nucleotide variants in the mitochondrial genome. A consensus sequence for the human mitochondrial genome has been derived from thirteen unrelated mtDNA sequences. We report 128 nucleotide variants of the human mtDNA sequence, and 62 amino acid variants of the human mitochondrial translation products, observed in the coding region of these mtDNA sequences.

Original language	English
Pages (from-to)	139-145
Number of pages	7
Journal	Human Genetics
Volume	88
Issue number	2
DOIs	https://doi.org/10.1007/BF00206061
Publication status	Published - Dec 1991
Externally published	Yes

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abstract = "A good standard reference for the highly polymorphic human mitochondrial DNA (mtDNA) sequence is essential for studies of normal and disease-related nucleotide variants in the mitochondrial genome. A consensus sequence for the human mitochondrial genome has been derived from thirteen unrelated mtDNA sequences. We report 128 nucleotide variants of the human mtDNA sequence, and 62 amino acid variants of the human mitochondrial translation products, observed in the coding region of these mtDNA sequences.",

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AU - Marzuki, S.

AU - Noer, A. S.

AU - Lertrit, P.

AU - Thyagarajan, D.

AU - Kapsa, R.

AU - Utthanaphol, P.

AU - Byrne, E.

PY - 1991/12

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AB - A good standard reference for the highly polymorphic human mitochondrial DNA (mtDNA) sequence is essential for studies of normal and disease-related nucleotide variants in the mitochondrial genome. A consensus sequence for the human mitochondrial genome has been derived from thirteen unrelated mtDNA sequences. We report 128 nucleotide variants of the human mtDNA sequence, and 62 amino acid variants of the human mitochondrial translation products, observed in the coding region of these mtDNA sequences.

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JO - Human Genetics

JF - Human Genetics

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Normal variants of human mitochondrial DNA and translation products: the building of a reference data base

Abstract

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