Expanding the Mutation Spectrum in ABCA4 : Sixty Novel Disease Causing Variants and Their Associated...
Expanding the Mutation Spectrum in ABCA4 : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
Here we report novel mutations in
with the underlying phenotype in a large French cohort with autosomal recessive Stargardt disease. The DNA samples of 397 index subjects were analyzed in exons and flanking intronic regions of
(NM_000350.2) by microarray analysis and direct Sanger sequencing. At the end of the screening, at least two likely p...
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Full title
Expanding the Mutation Spectrum in ABCA4 : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6121640
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6121640
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ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms19082196
