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Lessons from skin blistering: molecular mechanisms and unusual patterns of inheritance?

Lessons from skin blistering: molecular mechanisms and unusual patterns of inheritance?

http://www.wikidata.org/entity/Q41008423

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Lessons from skin blistering: molecular mechanisms and unusual patterns of inheritance?

http://www.wikidata.org/entity/Q41008423

description

1996 nî lūn-bûn

@nan

1996年の論文

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1996年論文

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1996年論文

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1996年論文

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1996年論文

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1996年論文

@zh-tw

1996年论文

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1996年论文

@zh

1996年论文

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name

Lessons from skin blistering: molecular mechanisms and unusual patterns of inheritance?

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type

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Lessons from skin blistering: molecular mechanisms and unusual patterns of inheritance?

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Lessons from skin blistering: molecular mechanisms and unusual patterns of inheritance?

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The American Journal of Pathology

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Lessons from skin blistering: molecular mechanisms and unusual patterns of inheritance?

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A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

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

Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition

Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia

Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa

Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities

A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa

A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa

Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa

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