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A new SPINK5 donor splice site mutation in siblings with Netherton syndrome.

Acta dermato-venereologica - 1 Jan 2010

Tüysüz Beyhan, Ojalvo David, Mat Cem, Zambruno Giovanna, Covaciu Claudia, Castiglia Daniele, D'Alessio Marina

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Identifiers

PMID: 20107740
DOI: 10.2340/00015555-0769

Genes

SPINK5

Provenance

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Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new SPINK5 donor splice site mutation in siblings with Netherton syndrome.PMID 20107740Read ↗

A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.Semantic proximity Read ↗

Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT.Semantic proximity Read ↗

A novel SPINK5 donor splice site variant in a child with Netherton syndrome.Semantic proximity Read ↗

A case of Netherton syndrome with mutation in SPINK5 and FLG.Semantic proximity Read ↗

SPINK5 mutation and FLG gene deletion in an infant with Netherton syndrome.Semantic proximity Read ↗

New mutation leading to the full variety of typical features of the Netherton syndrome.Semantic proximity Read ↗

Netherton Syndrome: A Genotype-Phenotype Review.Semantic proximity Read ↗

Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.Semantic proximity Read ↗

In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe.Semantic proximity Read ↗

Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.Semantic proximity Read ↗

Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene.Semantic proximity Read ↗

Glucose-6-phosphate dehydrogenase qingzhen: identification of a novel splice mutation (IVS5-1 G>A).Semantic proximity Read ↗

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