Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus

Congenital nystagmus (NYS) is characterized by bilateral, spontaneous, and involuntary movements of the eyeballs that most commonly presents between 2 and 6 months of life. To date, 44 different FRMD7 gene mutations have been found to be etiological factors for the NYS1 locus at Xq26-q27. The aim of...

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Main Authors: Radhakrishna, Uppala, Ratnamala, Uppala, Deutsch, Samuel, Bartoloni, Lucia, Kuracha, Murali R, Singh, Raminder, Banwait, Jasjit, Bastola, Dhundy K, Johar, Kaid, Nath, Swapan K, Antonarakis, Stylianos E
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3449080/
https://ncbi.nlm.nih.gov/pubmed/22490987
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.60
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