MECP2 Mutations and Rett Syndrome Phenotypes
Seventy-one sporadic and 7 familial Rett syndrome (RTT) patients were screened for MECP2 mutations by direct sequencing and the pattern of X chromosome inactivation (XCI) was determined in 39 RTT patients at the Baylor College of Medicine, Houston, TX.
Үндсэн зохиолч: | J Gordon Millichap |
---|---|
Формат: | Өгүүллэг |
Хэл сонгох: | English |
Хэвлэсэн: |
Pediatric Neurology Briefs Publishers
2000-05-01
|
Цуврал: | Pediatric Neurology Briefs |
Нөхцлүүд: | |
Онлайн хандалт: | https://www.pediatricneurologybriefs.com/articles/1936 |
Ижил төстэй зүйлс
Ижил төстэй зүйлс
-
Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant
-н: Satoru Takahashi, зэрэг
Хэвлэсэн: (2020-03-01) -
Progressive Encephalopathy in Boys with Symptoms of Rett Syndrome and MECP2 Mutations
-н: J Gordon Millichap
Хэвлэсэн: (2006-08-01) -
Broadening the Phenotype Spectrum of MECP2 Variants in Men
-н: Johannes Lötjönen, зэрэг
Хэвлэсэн: (2025-02-01) -
Rett Syndrome without MECP2 Mutation in a Pakistani Girl
-н: Rubina Dad, зэрэг
Хэвлэсэн: (2020-04-01) -
Mutation analysis of the MECP2 gene in Romanian females with Rett syndrome
-н: Dumitriu Simona, зэрэг
Хэвлэсэн: (2013-12-01)