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Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia

✍ Scribed by N Chassaing; N Ragge; A Kariminejad; A Buffet; S Ghaderi-Sohi; J Martinovic; P Calvas


Book ID
119981575
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
677 KB
Volume
83
Category
Article
ISSN
0009-9163

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First implication of STRA6 mutations in
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Microphthalmia, anophthalmia, and coloboma (MAC) are structural congenital eye malformations that cause a significant proportion of childhood visual impairments. Several disease genes have been identified but do not account for all MAC cases, suggesting that additional risk loci exist. We used singl