Erratum: The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions
نویسندگان
چکیده
منابع مشابه
CLN8 disease caused by large genomic deletions
BACKGROUND The presence of deletions can complicate genetic diagnosis of autosomal recessive disease. METHOD The DNA of patients was analyzed in a diagnostic setting. RESULTS We present three unrelated patients each carrying deletions that encompass the 37 kb CLN8 gene and discuss their phenotype. Two of the cases were hemizygous for a mutant allele - their deletions unmasked a mutation in ...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2016
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2016.96