title: A novel mutation in SLURP1 in patients with mal de Meleda from the Indian subcontinent.
authors.affiliation: Department of Dermatology, Maastricht University Medical Center, Maastricht, the Netherlands; GROW Research School for Oncology and Developmental Biology, Maastricht University, Maastricht, the Netherlands.
authors.forename: Ruud G L
authors.initials: RG
authors.lastname: Nellen
authors.affiliation: Department of Dermatology, Maastricht University Medical Center, Maastricht, the Netherlands; GROW Research School for Oncology and Developmental Biology, Maastricht University, Maastricht, the Netherlands.
authors.forename: Tijs
authors.initials: T
authors.lastname: Claessens
authors.affiliation: Departments of Dermatology and Biochemistry, JSS Medical College & Hospital, Mysore, Karnataka, India.
authors.forename: Ranugha
authors.initials: R
authors.lastname: Subramaniam
authors.affiliation: Departments of Dermatology and Biochemistry, JSS Medical College & Hospital, Mysore, Karnataka, India.
authors.forename: Jayadev
authors.initials: J
authors.lastname: Betkerur
authors.affiliation: Departments of Biochemistry, JSS Medical College & Hospital, Mysore, Karnataka, India.
authors.forename: Akila
authors.initials: A
authors.lastname: Prashanth
authors.affiliation: Department of Dermatology, Maastricht University Medical Center, Maastricht, the Netherlands; GROW Research School for Oncology and Developmental Biology, Maastricht University, Maastricht, the Netherlands.
authors.forename: Peter M
authors.initials: PM
authors.lastname: Steijlen
authors.affiliation: Department of Dermatology, Maastricht University Medical Center, Maastricht, the Netherlands; Clinical Genetics, Maastricht University Medical Centre, Maastricht University, Maastricht, the Netherlands; GROW Research School for Oncology and Developmental Biology, Maastricht University, Maastricht, the Netherlands.
authors.forename: Michel
authors.initials: M
authors.lastname: van Geel
mesh_terms: D000293:Adolescent; D000950:Antigens, Ly / Q000235:genetics*; D002648:Child; D005260:Female; D057809:HEK293 Cells; D006801:Humans; D007194:India; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D009154:Mutation; D022821:RNA Splice Sites; D014568:Urokinase-Type Plasminogen Activator / Q000235:genetics*
chemical_list: D000950:Antigens, Ly; D022821:RNA Splice Sites; C048963:SLURP1 protein, human; D014568:Urokinase-Type Plasminogen Activator
keywords: Diffuse palmoplantar keratoderma; Mal de Meleda; Mutation; SLURP1