The Xq22 Inversion Breakpoint Interrupted a Novel Ras-Like GTPase Gene in a Patient with Duchenne Muscular Dystrophy and Profound Mental Retardation

A male patient with profound mental retardation, athetosis, nystagmus, and severe congenital hypotonia (Duchenne muscular dystrophy [DMD]) was previously shown to carry a pericentric inversion of the X chromosome, 46,Y,inv(X)(p21.2q22.2). His mother carried this inversion on one X allele. The patien...

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Autores principales: Saito-Ohara, Fumiko, Fukuda, Yoji, Ito, Masahiro, Agarwala, Kishan Lal, Hayashi, Masaharu, Matsuo, Masafumi, Imoto, Issei, Yamakawa, Kazuhiro, Nakamura, Yusuke, Inazawa, Johji
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2002
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC379199/
https://ncbi.nlm.nih.gov/pubmed/12145744
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