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Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).

Kobayashi Y, Momoi MY, Tominaga K, Shimoizumi H, Nihei K, Yanagisawa M, Kagawa Y, Ohta S. Kobayashi Y, et al. Am J Hum Genet. 1991 Sep;49(3):590-9. Am J Hum Genet. 1991. PMID: 1715668 Free PMC article.

Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.

Zhong N, Martiniuk F, Tzall S, Hirschhorn R. Zhong N, et al. Am J Hum Genet. 1991 Sep;49(3):635-45. Am J Hum Genet. 1991. PMID: 1652892 Free PMC article.

Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II--and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient.

Indo Y, Glassberg R, Yokota I, Tanaka K. Indo Y, et al. Am J Hum Genet. 1991 Sep;49(3):575-80. Am J Hum Genet. 1991. PMID: 1882842 Free PMC article.

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