title: Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma.
authors.affiliation: Department of Dermatology, Columbia University, New York, New York, USA.
authors.forename: Megan
authors.initials: M
authors.lastname: Furniss
authors.affiliation: Department of Dermatology, Columbia University, New York, New York, USA.
authors.forename: Claire A
authors.initials: CA
authors.lastname: Higgins
authors.affiliation: Department of Dermatology, Columbia University, New York, New York, USA.
authors.forename: Amalia
authors.initials: A
authors.lastname: Martinez-Mir
authors.affiliation: Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Liran
authors.initials: L
authors.lastname: Horev
authors.affiliation: Department of Dermatology, Columbia University, New York, New York, USA; Department of Epidemiology, Columbia University, New York, New York, USA.
authors.forename: Lynn
authors.initials: L
authors.lastname: Petukhova
authors.affiliation: Department of Clinical Medicine, University of Applied Health Sciences, Zagreb, Croatia.
authors.forename: Andrija
authors.initials: A
authors.lastname: Stanimirović
authors.affiliation: Department of Dermatology, Maribor University, Maribor, Slovenia.
authors.forename: Jovan
authors.initials: J
authors.lastname: Miljković
authors.affiliation: Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Abraham
authors.initials: A
authors.lastname: Zlotogorski
authors.affiliation: Department of Dermatology, Columbia University, New York, New York, USA; Department of Genetics and Development, Columbia University, New York, New York, USA. Electronic address: amc65@columbia.edu.
authors.forename: Angela M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport; D002352:Carrier Proteins / Q000097:blood / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005192:Family Health; D005260:Female; D020558:GTP Phosphohydrolases / Q000378:metabolism; D008040:Genetic Linkage; D006801:Humans; D007249:Inflammation; D007645:Keratoderma, Palmoplantar / Q000097:blood / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012867:Skin / Q000473:pathology
chemical_list: C579464:AAGAB protein, human; D033942:Adaptor Proteins, Vesicular Transport; D002352:Carrier Proteins; D020558:GTP Phosphohydrolases