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Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.
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Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus. Eur J Hum Genet. 2012 Oct; 20(10):1032-6.
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PubMed
subject areas
Adolescent
Adolescent
Adult
Adult
Aged
Aged
Aged, 80 and over
Aged, 80 and over
Case-Control Studies
Case-Control Studies
Child
Child
Consanguinity
Consanguinity
Cytoskeletal Proteins
Cytoskeletal Proteins
Exons
Exons
Female
Female
Genes, X-Linked
Genes, X-Linked
Genetic Diseases, X-Linked
Genetic Diseases, X-Linked
Hemizygote
Hemizygote
Heterozygote
Heterozygote
Homozygote
Homozygote
Humans
Humans
India
India
Male
Male
Membrane Proteins
Membrane Proteins
Middle Aged
Middle Aged
Mutation, Missense
Mutation, Missense
Nystagmus, Congenital
Nystagmus, Congenital
Open Reading Frames
Open Reading Frames
Pedigree
Pedigree
Protein Structure, Secondary
Protein Structure, Secondary
authors with profiles
Swapan K. Nath