Identification of Distinct Mutations in AAGAB in Families with Type 1 Punctate Palmoplantar Keratoderma

Autor: Amalia Martinez-Mir, Claire A. Higgins, Megan Furniss, Andrija Stanimirović, Abraham Zlotogorski, Liran Horev, Lynn Petukhova, Jovan Miljković, Angela M. Christiano
Přispěvatelé: National Institute of Arthritis and Musculoskeletal and Skin Diseases (US), National Institute of General Medical Sciences (US)
Jazyk: angličtina
Předmět:
Male
Pathology
Genetic Linkage
DNA Mutational Analysis
inherited skin disorder
Biochemistry
GTP Phosphohydrolases
Keratoderma
Palmoplantar
Keratoderma
Skin pathology
skin and connective tissue diseases
Skin
Family health
Exons
3. Good health
Pedigree
Phenotype
punctate palmoplantar keratoderma
mutations
AAGAB
disorders of keratinization
Medical genetics
Female
Training program
musculoskeletal diseases
medicine.medical_specialty
congenital
hereditary
and neonatal diseases and abnormalities
education
Dermatology
Mendelian
Article
medicine
otorhinolaryngologic diseases
Humans
Molecular Biology
Family Health
Inflammation
business.industry
Extramural
Cell Biology
medicine.disease
Adaptor Proteins
Vesicular Transport
stomatognathic diseases
Carrier protein
genetic skin disorder
Mutation
business
Carrier Proteins
Punctate palmoplantar keratoderma
Zdroj: The Journal of investigative dermatology
Digital.CSIC. Repositorio Institucional del CSIC
instname
ISSN: 0022-202X
DOI: 10.1038/jid.2014.4
Popis: This study was supported in part by funding from the NIH/NIAMS (R01-AR44924) to AMC. MF is a trainee on NIH/NIGMS T32GM082771, Medical Genetics Training Program.
Databáze: OpenAIRE
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