A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements
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概要
- 論文の詳細を見る
- 2012-05-01
著者
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Castiglia Daniele
Laboratorio Di Biologia Molecolare E Cellulare Istituto Dermopatico Dell'immacolata-irccs
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Zambruno Giovanna
Laboratory Of Molecular And Cell Biology Istituto Dermopatico Dell'immacolata I.d.i.-i.r.c.c.s.
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Castiglia Daniele
Laboratory Of Molecular And Cell Biology Istituto Dermopatico Dell'immacolata-irccs
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FORTUGNO Paola
Dermatology Unit, Ospedale Pediatrico Bambino Gesu-IRCCS
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GROSSO Fabiana
Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata-IRCCS
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PASTORE Serena
Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo'
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FALETRA Flavio
Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo'
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Pastore Serena
Institute For Maternal And Child Health Irccs 'burlo Garofolo'
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Grosso Fabiana
Laboratory Of Molecular And Cell Biology Istituto Dermopatico Dell'immacolata-irccs
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Fortugno Paola
Dermatology Unit Ospedale Pediatrico Bambino Gesu-irccs
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Faletra Flavio
Institute For Maternal And Child Health Irccs 'burlo Garofolo'
関連論文
- Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family
- Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations
- Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa
- The placenta growth factor in skin angiogenesis
- A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements
- A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements