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Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re‐sequencing
Author(s) -
Srikrupa N.N.,
Srilekha S.,
Sen P.,
Arokiasamy T.,
Meenakshi S.,
Bhende M.,
Kapur S.,
Soumittra N.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13159
Subject(s) - genetics , candidate gene , mutation , biology , dna sequencing , gene , genotype , cohort , phenotype , genotype phenotype distinction , exome sequencing , medicine
Frequency of mutations in 14/20 Leber congenital amaurosis (LCA) candidate genes in the 61% (56/92) Indians with GUCY2D gene contributing the highest (13%).
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