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http://purl.uniprot.org/citations/18841575http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/18841575http://www.w3.org/2000/01/rdf-schema#comment"

Objective

To detect the genomic deletion mutation in the NEMO gene of a family with incontinentia pigmenti (IP; MIM 308310).

Methods

A pedigree of IP was investigated. By using long PCR, the Delta4-10 deletion in NEMO gene was tested with specific primers In2/JF3R, and Delta4-10 deletion in pseudogene DeltaNEMO was investigated with primers Rev-2/JF3R. NEMO gene of 80 normal controls was also tested.

Results

The deletion of exons 4-10 in both NEMO gene and the pseudogene DeltaNEMO was detected in all the patients in the family, but was not found in the normal individuals in this IP family and 80 unrelated controls.

Conclusion

The study showed that the family with IP, which showed anticipation, was caused by NEMODelta4-10 deletion in the NEMO gene. Long PCR analysis is proven to be an efficient tool for identification of NEMO rearrangements. It could provide useful information for the genetic counseling of the family involved."xsd:string
http://purl.uniprot.org/citations/18841575http://purl.uniprot.org/core/author"Shi H."xsd:string
http://purl.uniprot.org/citations/18841575http://purl.uniprot.org/core/author"Zhang G."xsd:string
http://purl.uniprot.org/citations/18841575http://purl.uniprot.org/core/author"Zhou Q."xsd:string
http://purl.uniprot.org/citations/18841575http://purl.uniprot.org/core/author"Du X."xsd:string
http://purl.uniprot.org/citations/18841575http://purl.uniprot.org/core/author"Shao M."xsd:string
http://purl.uniprot.org/citations/18841575http://purl.uniprot.org/core/date"2008"xsd:gYear
http://purl.uniprot.org/citations/18841575http://purl.uniprot.org/core/name"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"xsd:string
http://purl.uniprot.org/citations/18841575http://purl.uniprot.org/core/pages"573-575"xsd:string
http://purl.uniprot.org/citations/18841575http://purl.uniprot.org/core/title"[An incontinentia pigmenti family with deletion in both NEMO gene and pseudogene DeltaNEMO]."xsd:string
http://purl.uniprot.org/citations/18841575http://purl.uniprot.org/core/volume"25"xsd:string
http://purl.uniprot.org/citations/18841575http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/18841575
http://purl.uniprot.org/citations/18841575http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/18841575
http://purl.uniprot.org/uniprot/#_A0A087X1B1-mappedCitation-18841575http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18841575
http://purl.uniprot.org/uniprot/#_D3DWY0-mappedCitation-18841575http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18841575
http://purl.uniprot.org/uniprot/#_Q9Y6K9-mappedCitation-18841575http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18841575
http://purl.uniprot.org/uniprot/Q9Y6K9http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/18841575
http://purl.uniprot.org/uniprot/D3DWY0http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/18841575
http://purl.uniprot.org/uniprot/A0A087X1B1http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/18841575