A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype

Robert Gruber, Hans C Hennies, Nikolaus Romani, Matthias Schmuth

Research output: Contribution to journalArticle

8 Citations (Scopus)
Original languageEnglish
Pages (from-to)748-50
Number of pages3
JournalJAMA Dermatology
Volume147
Issue number6
DOIs
Publication statusPublished - Jun 2011
Externally publishedYes

Cite this

Gruber, Robert ; Hennies, Hans C ; Romani, Nikolaus ; Schmuth, Matthias. / A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype. In: JAMA Dermatology. 2011 ; Vol. 147, No. 6. pp. 748-50.
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A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype. / Gruber, Robert; Hennies, Hans C; Romani, Nikolaus; Schmuth, Matthias.

In: JAMA Dermatology, Vol. 147, No. 6, 06.2011, p. 748-50.

Research output: Contribution to journalArticle

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T1 - A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype

AU - Gruber, Robert

AU - Hennies, Hans C

AU - Romani, Nikolaus

AU - Schmuth, Matthias

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KW - Adult

KW - Anti-Infective Agents

KW - Antigens, Ly

KW - Biopsy

KW - Homozygote

KW - Humans

KW - Keratoderma, Palmoplantar

KW - Keratolytic Agents

KW - Male

KW - Mutation, Missense

KW - Phenotype

KW - Urokinase-Type Plasminogen Activator

KW - Case Reports

KW - Letter

KW - Research Support, Non-U.S. Gov't

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