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Maternal Transmission of the 3 bp Deletion within Exon 7 of the STS Gene in Steroid Sulfatase Deficiency  Margarita Valdes-Flores  Journal of Investigative.

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Presentation on theme: "Maternal Transmission of the 3 bp Deletion within Exon 7 of the STS Gene in Steroid Sulfatase Deficiency  Margarita Valdes-Flores  Journal of Investigative."— Presentation transcript:

1 Maternal Transmission of the 3 bp Deletion within Exon 7 of the STS Gene in Steroid Sulfatase Deficiency  Margarita Valdes-Flores  Journal of Investigative Dermatology  Volume 117, Issue 4, Pages (October 2001) DOI: /j x x Copyright © 2001 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 DNA sequence of the STS gene of the XLI patient and his mother. DNA sequence of exon 7 of the STS gene of the XLI patient (middle line), carrier mother (lower line), and normal control (upper line), only a small fragment is shown (starting at nucleotide 1241). The missing region of 3 bp observed in the XLI patient is underlining in the normal control. The heterozygote state of the mother is observed starting at nucleotide W = A + T, R = G + A, K = T + G, Y = C + T, M = A + C. Journal of Investigative Dermatology  , DOI: ( /j x x) Copyright © 2001 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Amino acid sequence of the STS polypeptide. Normal sequence of exon 7 of the STS gene with the respective amino acids (upper line) and the effect observed in the XLI patient described in the text (lower line). A 3 bp deletion (shadowed area) only results in the loss of glutamine (only nucleotides 1242–1280 and amino acids 324–335 are shown). The arrow indicates the nucleotides conforming the new codon that corresponds to the contiguos codon in the normal amino acid sequence. H, his; V, val; E, glu; S, ser; K, lys; G, gly; I, ile. Journal of Investigative Dermatology  , DOI: ( /j x x) Copyright © 2001 The Society for Investigative Dermatology, Inc Terms and Conditions

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