Genomics

Dataset Information

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A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance


ABSTRACT: A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance

PROVIDER: PRJNA629339 | ENA |

REPOSITORIES: ENA

Dataset's files

Source:
Action DRS
SRR11646600_1.fastq.gz Fastqsanger.gz
SRR11646600_2.fastq.gz Fastqsanger.gz
SRR11646601_1.fastq.gz Fastqsanger.gz
SRR11646601_2.fastq.gz Fastqsanger.gz
SRR11646602_1.fastq.gz Fastqsanger.gz
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Publications


Heterozygous in-frame mutations in coding regions of human <i>STAT3</i> underlie the only known autosomal dominant form of hyper IgE syndrome (AD HIES). About 5% of familial cases remain unexplained. The mutant proteins are loss-of-function and dominant-negative when tested following overproduction in recipient cells. However, the production of mutant proteins has not been detected and quantified in the cells of heterozygous patients. We report a deep intronic heterozygous <i>STAT3</i> mutation,  ...[more]

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