Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa
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概要
- 論文の詳細を見る
- 2008-07-01
著者
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FLORIDDIA Giovanna
Laboratorio di Biologia Molecolare e Cellulare, Istituto Dermopatico dell'Immacolata-IRCCS
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CASTIGLIA Daniele
Laboratorio di Biologia Molecolare e Cellulare, Istituto Dermopatico dell'Immacolata-IRCCS
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Castiglia Daniele
Laboratorio Di Biologia Molecolare E Cellulare Istituto Dermopatico Dell'immacolata-irccs
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Castiglia Daniele
Laboratory Of Molecular And Cell Biology Idi-irccs
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Floriddia Giovanna
Laboratorio Di Biologia Molecolare E Cellulare Istituto Dermopatico Dell'immacolata-irccs
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Floriddia Giovanna
Laboratory Of Molecular And Cell Biology Idi-irccs
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CASTORI Marco
Laboratory of Molecular and Cell Biology, IDI-IRCCS
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PISANESCHI Elisa
IRCCS CSS-Mendel Institute
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COVACIU Claudia
Laboratory of Molecular and Cell Biology, IDI-IRCCS
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PARADISI Mauro
VII Dermatology Division, IDI-IRCCS
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TORRENTE Isabella
IRCCS CSS-Mendel Institute
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Castori Marco
Laboratory Of Molecular And Cell Biology Idi-irccs
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Paradisi Mauro
Vii Dermatology Division Idi-irccs
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Paradisi Mauro
Vii Dermatology Division
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Covaciu Claudia
Laboratory Of Molecular And Cell Biology Idi-irccs
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
- Novel and recurrent ALDH3A2 mutations in Italian patients with Sjogren-Larsson syndrome
- A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements