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Novel mutation c.980983delATTA compound with c.986C〉A mutation of the FRMD7 gene in a Chinese family...

Novel mutation c.980983delATTA compound with c.986C〉A mutation of the FRMD7 gene in a Chinese family...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_chongqing_primary_46061955

Novel mutation c.980983delATTA compound with c.986C〉A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus

About this item

Full title

Novel mutation c.980983delATTA compound with c.986C〉A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus

Journal title

浙江大学学报:B卷英文版, 2013, Vol.14 (6), p.479-486

Language

English

Formats

More information

Scope and Contents

Contents

Objective:To screen mutations in FERM domain-containing protein 7(FRMD7) gene in two Chinese families with X-linked idiopathic congenital nystagmus(XLICN).Methods:Common ophthalmic data and peripheral blood of two Chinese XLICN families(families A and B) were collected after informed consent.Genomic DNA was prepared from the peripheral blood of mem...

Alternative Titles

Full title

Novel mutation c.980983delATTA compound with c.986C〉A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_chongqing_primary_46061955

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_chongqing_primary_46061955

Other Identifiers

ISSN

1673-1581

E-ISSN

1862-1783

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