Publications:

Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing.

Eye And Vision (London, England)

Raj, Rajendran Kadarkarai RK; Dhoble, Pankaja P; Anjanamurthy, Rupa R; Chermakani, Prakash P; Kumaran, Manojkumar M; Devarajan, Bharanidharan B; Sundaresan, Periasamy P

Publication Date: 2020

Variant appearance in text: rs1801359

PubMed Link: 31934596

Variant Present in the following documents:

• Main text
• 40662_2019_Article_168.pdf

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Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Investigative Ophthalmology & Visual Science

Schulz, Heidi L HL; Grassmann, Felix F; Kellner, Ulrich U; Spital, Georg G; Rüther, Klaus K; Jägle, Herbert H; Hufendiek, Karsten K; Rating, Philipp P; Huchzermeyer, Cord C; Baier, Maria J MJ; Weber, Bernhard H F BH; Stöhr, Heidi H

Publication Date: 2017-01-01

Variant appearance in text: rs1801359

PubMed Link: 28118664

Variant Present in the following documents:

• iovs-57-15-69_s07.pdf

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Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.

Investigative Ophthalmology & Visual Science

Singh, Hardeep Pal HP; Jalali, Subhadra S; Narayanan, Raja R; Kannabiran, Chitra C

Publication Date: 2009-09

Variant appearance in text: rs1801359

PubMed Link: 19339744

Variant Present in the following documents:

• Main text

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