Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa.
about
Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa.
description
2013 nî lūn-bûn
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name
Compound heterozygosity of the ...... trophic epidermolysis bullosa.
@en
Compound heterozygosity of the ...... trophic epidermolysis bullosa.
@nl
type
label
Compound heterozygosity of the ...... trophic epidermolysis bullosa.
@en
Compound heterozygosity of the ...... trophic epidermolysis bullosa.
@nl
prefLabel
Compound heterozygosity of the ...... trophic epidermolysis bullosa.
@en
Compound heterozygosity of the ...... trophic epidermolysis bullosa.
@nl
P2093
P2860
P50
P356
P1476
Compound heterozygosity of the ...... strophic epidermolysis bullosa
@en
P2093
M Venturini
S Quinzani
P2860
P304
P356
10.1111/BJD.12063
P407
P577
2013-01-31T00:00:00Z