title: Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa.
authors: Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany.
authors: Yinghong
authors: Y
authors: He
authors: Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
authors: Meena
authors: M
authors: Balasubramanian
authors: Sheffield Children's NHS Foundation Trust, Sheffield, UK.
authors: Nigel
authors: N
authors: Humphreys
authors: Sheffield Children's NHS Foundation Trust, Sheffield, UK.
authors: Catherine
authors: C
authors: Waruiru
authors: Private Practice for Human Genetics, Freiburg, Germany.
authors: Martin
authors: M
authors: Brauner
authors: Private Practice for Human Genetics, Freiburg, Germany.
authors: Juergen
authors: J
authors: Kohlhase
authors: Sheffield Children's NHS Foundation Trust, Sheffield, UK.
authors: Ruth
authors: R
authors: O'Reilly
authors: Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany. Electronic address: cristina.has@uniklinik-freiburg.de.
authors: Cristina
authors: C
authors: Has
mesh_terms: D004252:DNA Mutational Analysis; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000503:physiopathology; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D039422:Integrin alpha3 / Q000235:genetics*; D017563:Lung Diseases, Interstitial / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009154:Mutation / Q000235:genetics*; D009404:Nephrotic Syndrome / Q000235:genetics* / Q000503:physiopathology; D020641:Polymorphism, Single Nucleotide; D012326:RNA Splicing / Q000235:genetics
chemical_list: C000599264:ITGA3 protein, human; D039422:Integrin alpha3