The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex

Dharshini Sathishkumar; Elizabeth Orrin; Ana Terron-Kwiatkowski; Fiona Browne; Anna E. Martinez; Jemima E. Mellerio; Malobi Ogboli; Susannah Hoey; Linda Ozoemena; Lu Liu; David Baty; John A. McGrath; Celia Moss

doi:10.1016/j.jid.2015.11.024

The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex

Dharshini Sathishkumar (Lead / Corresponding author), Elizabeth Orrin, Ana Terron-Kwiatkowski, Fiona Browne, Anna E. Martinez, Jemima E. Mellerio, Malobi Ogboli, Susannah Hoey, Linda Ozoemena, Lu Liu, David Baty, John A. McGrath, Celia Moss

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

17 Citations (Scopus)

Original language	English
Pages (from-to)	719-721
Number of pages	3
Journal	Journal of Investigative Dermatology
Volume	136
Issue number	3
Early online date	30 Dec 2015
DOIs	https://doi.org/10.1016/j.jid.2015.11.024
Publication status	Published - Mar 2016

Keywords

Cause of death
Child, Preschool
DNA mutational analysis
Epidermolysis bullosa simplex
Female
Humans
Infant
Infant, Newborn
Keratin-14
Keratin-5
Male
Mutation, Missense
Prognosis
Sampling studies
Survival rate
Letter

Access to Document

10.1016/j.jid.2015.11.024

Cite this

Sathishkumar, D., Orrin, E., Terron-Kwiatkowski, A., Browne, F., Martinez, A. E., Mellerio, J. E., Ogboli, M., Hoey, S., Ozoemena, L., Liu, L., Baty, D., McGrath, J. A., & Moss, C. (2016). The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex. Journal of Investigative Dermatology, 136(3), 719-721. https://doi.org/10.1016/j.jid.2015.11.024

@article{764932a8610142668459293a13758195,

title = "The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex",

keywords = "Cause of death, Child, Preschool, DNA mutational analysis, Epidermolysis bullosa simplex, Female, Humans, Infant, Infant, Newborn, Keratin-14, Keratin-5, Male, Mutation, Missense, Prognosis, Sampling studies, Survival rate, Letter",

author = "Dharshini Sathishkumar and Elizabeth Orrin and Ana Terron-Kwiatkowski and Fiona Browne and Martinez, {Anna E.} and Mellerio, {Jemima E.} and Malobi Ogboli and Susannah Hoey and Linda Ozoemena and Lu Liu and David Baty and McGrath, {John A.} and Celia Moss",

year = "2016",

month = mar,

doi = "10.1016/j.jid.2015.11.024",

language = "English",

volume = "136",

pages = "719--721",

journal = "Journal of Investigative Dermatology",

issn = "0022-202X",

publisher = "Elsevier",

number = "3",

}

Sathishkumar, D, Orrin, E, Terron-Kwiatkowski, A, Browne, F, Martinez, AE, Mellerio, JE, Ogboli, M, Hoey, S, Ozoemena, L, Liu, L, Baty, D, McGrath, JA & Moss, C 2016, 'The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex', Journal of Investigative Dermatology, vol. 136, no. 3, pp. 719-721. https://doi.org/10.1016/j.jid.2015.11.024

The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex. / Sathishkumar, Dharshini (Lead / Corresponding author); Orrin, Elizabeth; Terron-Kwiatkowski, Ana et al.
In: Journal of Investigative Dermatology, Vol. 136, No. 3, 03.2016, p. 719-721.

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

TY - JOUR

T1 - The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex

AU - Sathishkumar, Dharshini

AU - Orrin, Elizabeth

AU - Terron-Kwiatkowski, Ana

AU - Browne, Fiona

AU - Martinez, Anna E.

AU - Mellerio, Jemima E.

AU - Ogboli, Malobi

AU - Hoey, Susannah

AU - Ozoemena, Linda

AU - Liu, Lu

AU - Baty, David

AU - McGrath, John A.

AU - Moss, Celia

PY - 2016/3

Y1 - 2016/3

KW - Cause of death

KW - Child, Preschool

KW - DNA mutational analysis

KW - Epidermolysis bullosa simplex

KW - Female

KW - Humans

KW - Infant

KW - Infant, Newborn

KW - Keratin-14

KW - Keratin-5

KW - Male

KW - Mutation, Missense

KW - Prognosis

KW - Sampling studies

KW - Survival rate

KW - Letter

U2 - 10.1016/j.jid.2015.11.024

DO - 10.1016/j.jid.2015.11.024

M3 - Letter

C2 - 26743602

SN - 0022-202X

VL - 136

SP - 719

EP - 721

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

IS - 3

ER -