Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

[1] R133C and R168X mutations in Japanese Rett syndrome patients: a caution for misdiagnosis [J]. BRAIN & DEVELOPMENT, 2001, 23 : S152 - S156

[2] Amir RE, 2000, AM J MED GENET, V97, P147, DOI 10.1002/1096-8628(200022)97:2<147::AID-AJMG6>3.0.CO

[3] 2-O

[4] Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 [J]. NATURE GENETICS, 1999, 23 (02) : 185 - 188

[5] Amir RE, 2000, ANN NEUROL, V47, P670, DOI 10.1002/1531-8249(200005)47:5<670::AID-ANA20>3.0.CO

[6] 2-F

[7] Armitage P., 1971, STAT METHODS MED RES

[8] MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features [J]. NEUROLOGY, 2001, 56 (05) : 611 - 617

[9] Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA [J]. BIOCHEMISTRY, 2000, 39 (24) : 7100 - 7106

[10] Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene:: Identification of several novel mutations and polymorphisms [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (06) : 1428 - 1436

[1] R133C and R168X mutations in Japanese Rett syndrome patients: a caution for misdiagnosis [J]. BRAIN & DEVELOPMENT, 2001, 23 : S152 - S156

[2] Amir RE, 2000, AM J MED GENET, V97, P147, DOI 10.1002/1096-8628(200022)97:2<147::AID-AJMG6>3.0.CO

[3] 2-O

[4] Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 [J]. NATURE GENETICS, 1999, 23 (02) : 185 - 188

[5] Amir RE, 2000, ANN NEUROL, V47, P670, DOI 10.1002/1531-8249(200005)47:5<670::AID-ANA20>3.0.CO

[6] 2-F

[7] Armitage P., 1971, STAT METHODS MED RES

[8] MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features [J]. NEUROLOGY, 2001, 56 (05) : 611 - 617

[9] Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA [J]. BIOCHEMISTRY, 2000, 39 (24) : 7100 - 7106

[10] Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene:: Identification of several novel mutations and polymorphisms [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (06) : 1428 - 1436