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Figure 26 | Orphanet Journal of Rare Diseases

Figure 26

From: Fabry disease

Figure 26

Genotyping of the GLA gene in heterozygous females: A. Patient CB, a 17-year-old girl, was shown to carry a T to G transversion in exon 6 at position 884 in the cDNA sequence. This nucleotide substitution alters the codon (TT C) for phenylalanine to the codon (TG C) for cysteine at position 295 of the α-galactosidase A protein (p.Phe295Cys). B. Patient ZB, a 46-year-old woman, was shown to carry a T to G transversion in exon 1 at position 125 in the cDNA sequence. This nucleotide substitution alters the codon (ATG) for methionine to the codon (AGG) for arginine at position 42 of the α-galactosidase A protein (p.Met42Arg). C. Patient NL, a 63-year-old woman was shown to carry a G to T transversion in exon 6 at position 982 in the cDNA sequence. This nucleotide substitution alters the codon (GGG) for glycine to the codon (TGG) for tryptophan at position 328 of the α-galactosidase A protein (p.Gly328Trp). Despite scanning of the rest of the gene, no other sequence abnormality was found. Courtesy: Pr Xavier JEUNEMAITRE and Dr Anne-Laure FAURET, HEGP, Paris, France.

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