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Article

Genetic mapping of human heart-skeletal muscle adenine nucleotide translocator and its relationship to the facioscapulohumeral muscular dystrophy locus.

Genomics - 1 May 1993

Haraguchi Y, Chung A B, Torroni A, Stepien G, Shoffner J M, Wasmuth J J, Costigan D A, Polak M, Altherr M R, Winokur S T

Abstract excerpt

The mitochondrial heart-skeletal muscle adenine nucleotide translocator (ANT1) was regionally mapped to 4q35-qter using somatic cell hybrids containing deleted chromosome 4. The regional location was further refined through family studies using ANT1 intron and promoter nucleotide polymorphisms recognized by the restriction endonucleases MboII, NdeI, and HaeIII. Two alleles were found, each at a frequency of 0.5....

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PMID: 8100217
DOI: 10.1006/geno.1993.1214

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