A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa.
about
An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindredEpidermolysis bullosa pruriginosa: a systematic review exploring genotype-phenotype correlation.Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.
P2860
A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa.
description
2009 nî lūn-bûn
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name
A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa.
@en
A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa.
@nl
type
label
A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa.
@en
A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa.
@nl
prefLabel
A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa.
@en
A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa.
@nl
P1476
A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa.
@en
P304
P356
10.1111/J.1365-2230.2009.03271.X
P577
2009-05-27T00:00:00Z