Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.
Fernando A
FA
Rodríguez
María José
MJ
Gana
María Joao
MJ
Yubero
Gisela
G
Zillmann
Susanne M
SM
Krämer
Javiera
J
Catalán
Julia
J
Rubio-Astudillo
Sergio
S
González
Lu
L
Liu
Linda
L
Ozoemena
Jemima E
JE
Mellerio
Jemima M
JM
Mellerio
John A
JA
McGrath
Francis
F
Palisson
Paulette
P
Conget
D016022:Case-Control Studies; D002677:Chile; D024143:Collagen Type VII / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D009154:Mutation; D010641:Phenotype; D012867:Skin / Q000473:pathology
C569053:COL7A1 protein, human; D024143:Collagen Type VII