Almost all Japanese group A xeroderma pigmentosum (XP‐A) patients have nonsense and/or nonsense codon‐leading mutations in the XP group A (XPA) gene, and develop neurological abnormalities. Walking ability is one of the most important neuromuscular functions of the patients, because it determines their daily activities. We studied the correlation between the various combinations of mutations found by PCR‐RFLP in Japanese XP‐A patients and their chronological walking impairment. We classified these patients into six groups. Group I: A patient who was homozygous for the mutation at codon 116 in exon 3 (Type 1 mutation) could never walk unaided. Group III: Typical patients who were homozygous for the mutation at intron 3 (Type 2 mutation) could walk unaided till 7–16 years of age. Group V: Patients who were compound heterozygous for Type 2 mutation and for the mutation at codon 228 in exon 6 (Type 3 mutation) began to develop some walking difficulty at 5–13 years of age and became unable to walk at 25–28 years of age. Group VI: A patient who was homozygous for Type 3 mutation could walk unaided without any difficulty till the age of 21. The walking ability of group II and IV patients is not known yet.
2016 International Conference on Solid State Devices and Materials,Crystallographic and Optical Properties and Band Diagrams of CuGaS2, CuGa3S5, and CuGa5S8 Phases in Cu-poor Cu2S-Ga2S3 Pseudo-binary System
Abstract The thermal expansion of a diluted Ce system La 1- x Ce x Cu 6 for (0.6 ≤ x ≤ 1) has been measured between 10 and 150 K to reveal the change from the coherent heavy Fermion state (0.9 ≤ x ≤ 1) to the incoherent Kondo state (0 < x ≤ 0.73). The large Ce concentration x dependence of the linear thermal expansion coefficient along b-axis α b ( T ) suggests that the coupling between the 4 f 1 electron and the lattice strain is the largest along the b-axis in the three crystallographic axes. The maximum of the magnetic contribution to the volume thermal expansion coefficient β m ( T ) at T = 50 K is retained in the x range of 0.6 ≤ x ≤ 1, suggesting the crystalline electric field (CEF) level for x = 1 doesn’t change by the substitution. Furthermore, the upturn in β m ( T ) below 25 K, which should be a precursor of the maximum at T = 2.5 K reported for x = 1, is retained when we decrease x from 1 to 0.6. Because the ground state for x = 0.6 is the incoherent Kondo state, the robustness of the maximum at T = 50 K and upturn in the current x value implies that β m ( T ) in 10 ≤ T ≤ 150 K is attributed to the CEF and Kondo effects rather than the formation of the heavy Fermion state.
