A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa
| Autor: | Laurent Gagnoux-Palacios, Jouni Uitto, Leena Pulkkinen, Gianluca Tadini, Jean Paul Ortonne, Corinne Miquel, Christian Baudoin, Angela M. Christiano, Guerrino Meneguzzi |
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| Rok vydání: | 1994 |
| Předmět: |
Male
Biopsy Nonsense mutation Molecular Sequence Data medicine.disease_cause Junctional epidermolysis bullosa (medicine) Polymerase Chain Reaction Consanguinity Open Reading Frames Fetus Laminin Pregnancy Genetics medicine Humans Point Mutation In patient Molecular Biology Gene Genetics (clinical) DNA Primers Skin Mutation biology Base Sequence Homozygote Infant Abortion Induced General Medicine Exons medicine.disease Introns Pedigree LAMC2 Gene biology.protein Female Epidermolysis bullosa Epidermolysis Bullosa Junctional |
| Zdroj: | Human molecular genetics. 3(10) |
| ISSN: | 0964-6906 |
| Databáze: | OpenAIRE |
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