Novel homozygous, heterozygous and hemizygous FRMD7 gene...

European Journal of Human Genetics 2012 / 10 Vol. 20; Iss. 10

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

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
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Volume:
20
Language:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/ejhg.2012.60
Date:
October, 2012
File:
PDF, 396 KB
english, 2012
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