Fig. 4.
![Fig. 4. A single A621 to T transversion is identified in the ALAS-E gene of the pyridoxine-refractory XLSA patient. Sequence analysis of DNA from peripheral lymphoid cells of proband, his mother, and sister showed a single A to T transversion at nt position 621 (compare [A] (normal control) with [B] (proband)). (C) shows sequence from his mother's ALAS-E genes. Note that the nt position 621 consists of compound wild type (A) and mutant nucleotides (T), indicating X chromosome-linked inheritance of this mutation.](https://ash.silverchair-cdn.com/ash/content_public/journal/blood/90/2/10.1182_blood.v90.2.822/4/bl_0035f4.jpeg?Expires=1723368529&Signature=DDyoW~2o~5ng~8b-JBMnCFcVqrAzkI7hTL-c0pHidXYzAB-tFN-VpMiUc9kzntVtCKDT4PfJ4Kd2UwTMHr9picOPVt7JOn4X6Kb1CMV~POJCI2K~~iaixVA459pmKa~Qsfj1zRii2p4eMX-DnO1NX5UlYiEjLdVHmC0ZORI7RIBVFNzr4i7uESs5CEWrjGZiqWuuu8pstuj1dzRr-l06BBr4fddtaQNlWnXWG~L7yfZL-m0482gFEgmtctah5AeX3n0E-DvUcOkBkfCO8a0Gh~tTpL85FZtYOLj9pO7I7v6MlOyogCAfPHqv3dbWA~T7Kf~UTphaGCEXooivaDsGog__&Key-Pair-Id=APKAIE5G5CRDK6RD3PGA)
A single A621 to T transversion is identified in the ALAS-E gene of the pyridoxine-refractory XLSA patient. Sequence analysis of DNA from peripheral lymphoid cells of proband, his mother, and sister showed a single A to T transversion at nt position 621 (compare [A] (normal control) with [B] (proband)). (C) shows sequence from his mother's ALAS-E genes. Note that the nt position 621 consists of compound wild type (A) and mutant nucleotides (T), indicating X chromosome-linked inheritance of this mutation.
