Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa.

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Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa.

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1998 nî lūn-bûn

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1998年の論文

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1998年学术文章

@wuu

1998年学术文章

@zh

1998年学术文章

@zh-cn

1998年学术文章

@zh-hans

1998年学术文章

@zh-my

1998年学术文章

@zh-sg

1998年學術文章

@yue

1998年學術文章

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name

Frameshift mutations in the ty ...... trophic epidermolysis bullosa.

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Frameshift mutations in the type VII collagen gene

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type

Item

label

Frameshift mutations in the ty ...... trophic epidermolysis bullosa.

@en

Frameshift mutations in the type VII collagen gene

@nl

prefLabel

Frameshift mutations in the ty ...... trophic epidermolysis bullosa.

@en

Frameshift mutations in the type VII collagen gene

@nl

P1476

Frameshift mutations in the ty ...... trophic epidermolysis bullosa.

@en

P2093

Amaya-Guerra M

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Ashton GH

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Eady RA

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McGrath JA

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Mellerio JE

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Salas-Alanis JC

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P2860

Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen

Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa

Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

Ribozyme-mediated repair of defective mRNA by targeted, trans-splicing.

Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis.

Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression.

Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain.

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry.

P304

852-858

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scholarly article

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10.1046/J.1365-2133.1998.02225.X

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English

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P478

138

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P577

1998-05-01T00:00:00Z

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P698

9666834

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P921

Recessive dystrophic epidermolysis bullosa