Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa

Fernando A Rodríguez; María José Gana; María Joao Yubero; Gisela Zillmann; Susanne M Krämer; Javiera Catalán; Julia Rubio-Astudillo; Sergio González; Lu Liu; Linda Ozoemena; Jemima E Mellerio; Jemima M Mellerio; John A McGrath; Francis Palisson; Paulette Conget

doi:10.1016/j.jdermsci.2011.11.010

Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa

Fernando A Rodríguez, María José Gana, María Joao Yubero, Gisela Zillmann, Susanne M Krämer, Javiera Catalán, Julia Rubio-Astudillo, Sergio González, Lu Liu, Linda Ozoemena, Jemima E Mellerio, Jemima M Mellerio, John A McGrath, Francis Palisson, Paulette Conget

Dermatology

Research output: Contribution to journal › Letter › peer-review

14 Citations (Scopus)

Original language	English
Article number	N/A
Pages (from-to)	149-152
Number of pages	4
Journal	Journal of Dermatological Science
Volume	65
Issue number	2
DOIs	https://doi.org/10.1016/j.jdermsci.2011.11.010
Publication status	Published - Feb 2012

Keywords

Case-Control Studies
Chile
Collagen Type VII
DNA Mutational Analysis
Epidermolysis Bullosa Dystrophica
Gene Frequency
Genetic Predisposition to Disease
Heredity
Humans
Mutation
Phenotype
Skin

Access to Document

10.1016/j.jdermsci.2011.11.010

Cite this

Rodríguez, F. A., Gana, M. J., Yubero, M. J., Zillmann, G., Krämer, S. M., Catalán, J., Rubio-Astudillo, J., González, S., Liu, L., Ozoemena, L., Mellerio, J. E., Mellerio, J. M., McGrath, J. A., Palisson, F., & Conget, P. (2012). Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa. Journal of Dermatological Science, 65(2), 149-152. Article N/A. https://doi.org/10.1016/j.jdermsci.2011.11.010

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title = "Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa",

keywords = "Case-Control Studies, Chile, Collagen Type VII, DNA Mutational Analysis, Epidermolysis Bullosa Dystrophica, Gene Frequency, Genetic Predisposition to Disease, Heredity, Humans, Mutation, Phenotype, Skin",

author = "Rodr{\'i}guez, {Fernando A} and Gana, {Mar{\'i}a Jos{\'e}} and Yubero, {Mar{\'i}a Joao} and Gisela Zillmann and Kr{\"a}mer, {Susanne M} and Javiera Catal{\'a}n and Julia Rubio-Astudillo and Sergio Gonz{\'a}lez and Lu Liu and Linda Ozoemena and Mellerio, {Jemima E} and Mellerio, {Jemima M} and McGrath, {John A} and Francis Palisson and Paulette Conget",

year = "2012",

month = feb,

doi = "10.1016/j.jdermsci.2011.11.010",

language = "English",

volume = "65",

pages = "149--152",

journal = "Journal of Dermatological Science",

issn = "0923-1811",

publisher = "Elsevier Ireland Ltd",

number = "2",

}

Rodríguez, FA, Gana, MJ, Yubero, MJ, Zillmann, G, Krämer, SM, Catalán, J, Rubio-Astudillo, J, González, S, Liu, L, Ozoemena, L, Mellerio, JE, Mellerio, JM, McGrath, JA, Palisson, F & Conget, P 2012, 'Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa', Journal of Dermatological Science, vol. 65, no. 2, N/A, pp. 149-152. https://doi.org/10.1016/j.jdermsci.2011.11.010

TY - JOUR

T1 - Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa

AU - Rodríguez, Fernando A

AU - Gana, María José

AU - Yubero, María Joao

AU - Zillmann, Gisela

AU - Krämer, Susanne M

AU - Catalán, Javiera

AU - Rubio-Astudillo, Julia

AU - González, Sergio

AU - Liu, Lu

AU - Ozoemena, Linda

AU - Mellerio, Jemima E

AU - Mellerio, Jemima M

AU - McGrath, John A

AU - Palisson, Francis

AU - Conget, Paulette

PY - 2012/2

Y1 - 2012/2

KW - Case-Control Studies

KW - Chile

KW - Collagen Type VII

KW - DNA Mutational Analysis

KW - Epidermolysis Bullosa Dystrophica

KW - Gene Frequency

KW - Genetic Predisposition to Disease

KW - Heredity

KW - Humans

KW - Mutation

KW - Phenotype

KW - Skin

U2 - 10.1016/j.jdermsci.2011.11.010

DO - 10.1016/j.jdermsci.2011.11.010

M3 - Letter

C2 - 22209565

SN - 0923-1811

VL - 65

SP - 149

EP - 152

JO - Journal of Dermatological Science

JF - Journal of Dermatological Science

IS - 2

M1 - N/A

ER -