MECP2 Mutations and Rett Syndrome Phenotypes

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.

書誌詳細
第一著者: J Gordon Millichap
フォーマット: 論文
言語:English
出版事項: Pediatric Neurology Briefs Publishers 2000-05-01
シリーズ:Pediatric Neurology Briefs
主題:
rett syndrome
milder phenotypes
x chromosome inactivation
オンライン･アクセス:https://www.pediatricneurologybriefs.com/articles/1936
その他の書誌記述
要約: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.
ISSN:1043-3155
2166-6482

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