Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling

Elizabeth Pohler; Mozheh Zamiri; Catriona Harkins; Julio C Salas-Alanis; William Perkins; Frances J. D. Smith; W. H. Irwin McLean; Sara J. Brown

doi:10.1038/jid.2013.243

Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling

Elizabeth Pohler, Mozheh Zamiri, Catriona Harkins, Julio C Salas-Alanis, William Perkins, Frances J. D. Smith, W. H. Irwin McLean, Sara J. Brown (Lead / Corresponding author)

Research output: Contribution to journal › Letter

11 Citations (Scopus)

Original language	English
Pages (from-to)	2805-2808
Number of pages	4
Journal	Journal of Investigative Dermatology
Volume	133
Issue number	12
Early online date	6 Jun 2013
DOIs	https://doi.org/10.1038/jid.2013.243
Publication status	Published - Dec 2013

Cite this

Pohler, E., Zamiri, M., Harkins, C., Salas-Alanis, J. C., Perkins, W., Smith, F. J. D., McLean, W. H. I., & Brown, S. J. (2013). Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling. Journal of Investigative Dermatology, 133(12), 2805-2808. https://doi.org/10.1038/jid.2013.243

Pohler, Elizabeth ; Zamiri, Mozheh ; Harkins, Catriona ; Salas-Alanis, Julio C ; Perkins, William ; Smith, Frances J. D. ; McLean, W. H. Irwin ; Brown, Sara J. / Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling. In: Journal of Investigative Dermatology. 2013 ; Vol. 133, No. 12. pp. 2805-2808.

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title = "Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling",

author = "Elizabeth Pohler and Mozheh Zamiri and Catriona Harkins and Salas-Alanis, {Julio C} and William Perkins and Smith, {Frances J. D.} and McLean, {W. H. Irwin} and Brown, {Sara J.}",

year = "2013",

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doi = "10.1038/jid.2013.243",

language = "English",

volume = "133",

pages = "2805--2808",

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Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling. / Pohler, Elizabeth; Zamiri, Mozheh; Harkins, Catriona; Salas-Alanis, Julio C; Perkins, William; Smith, Frances J. D.; McLean, W. H. Irwin ; Brown, Sara J. (Lead / Corresponding author).

In: Journal of Investigative Dermatology, Vol. 133, No. 12, 12.2013, p. 2805-2808.

Research output: Contribution to journal › Letter

TY - JOUR

T1 - Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling

AU - Pohler, Elizabeth

AU - Zamiri, Mozheh

AU - Harkins, Catriona

AU - Salas-Alanis, Julio C

AU - Perkins, William

AU - Smith, Frances J. D.

AU - McLean, W. H. Irwin

AU - Brown, Sara J.

PY - 2013/12

Y1 - 2013/12

U2 - 10.1038/jid.2013.243

DO - 10.1038/jid.2013.243

M3 - Letter

C2 - 23743648

VL - 133

SP - 2805

EP - 2808

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

SN - 0022-202X

IS - 12

ER -

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10.1038/jid.2013.243

Projects

Dermatology and Genetic Medicine (Strategic Grant) (Joint with Kings College London)

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Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling

Cite this

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Projects

Dermatology and Genetic Medicine (Strategic Grant) (Joint with Kings College London)