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.
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Pediatric Neurology Briefs Publishers
2000-05-01
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Online Access: | https://www.pediatricneurologybriefs.com/articles/1936 |
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doaj-819e9b4798ec4b51b409a8baf51a64692020-11-25T01:01:02ZengPediatric Neurology Briefs PublishersPediatric Neurology Briefs1043-31552166-64822000-05-01145393910.15844/pedneurbriefs-14-5-101923MECP2 Mutations and Rett Syndrome PhenotypesJ Gordon Millichap0Northwestern University Feinberg School of MedicineSeventy-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.https://www.pediatricneurologybriefs.com/articles/1936rett syndromemilder phenotypesx chromosome inactivation |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
J Gordon Millichap |
spellingShingle |
J Gordon Millichap MECP2 Mutations and Rett Syndrome Phenotypes Pediatric Neurology Briefs rett syndrome milder phenotypes x chromosome inactivation |
author_facet |
J Gordon Millichap |
author_sort |
J Gordon Millichap |
title |
MECP2 Mutations and Rett Syndrome Phenotypes |
title_short |
MECP2 Mutations and Rett Syndrome Phenotypes |
title_full |
MECP2 Mutations and Rett Syndrome Phenotypes |
title_fullStr |
MECP2 Mutations and Rett Syndrome Phenotypes |
title_full_unstemmed |
MECP2 Mutations and Rett Syndrome Phenotypes |
title_sort |
mecp2 mutations and rett syndrome phenotypes |
publisher |
Pediatric Neurology Briefs Publishers |
series |
Pediatric Neurology Briefs |
issn |
1043-3155 2166-6482 |
publishDate |
2000-05-01 |
description |
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. |
topic |
rett syndrome milder phenotypes x chromosome inactivation |
url |
https://www.pediatricneurologybriefs.com/articles/1936 |
work_keys_str_mv |
AT jgordonmillichap mecp2mutationsandrettsyndromephenotypes |
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1725211180859916288 |