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BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.

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第一作者： Marcin,Bednarek

第一单位： 2nd Department of General Surgery, Jagiellonian University Medical College, Krakow, Poland.;University Hospital, Krakow, Poland.

作者： Marcin,Bednarek ^[1] ; Marek,Trybus ^[1] ; Monika,Kolanowska ^[2] ; Mateusz,Koziej ^[3] ; Beata,Kiec-Wilk ^[4] ; Artur,Dobosz ^[5] ; Marta,Kotlarek-Łysakowska ^[2] ; Anna,Kubiak-Dydo ^[2] ; Ewelina,Użarowska-Gąska ^[2] ; Julia,Staręga-Rosłan ^[2] ; Paweł,Gaj ^[2] ; Izabela,Górzyńska ^[2] ; Katarzyna,Serwan ^[2] ; Michał,Świerniak ^[2] ; Adam,Kot ^[2] ; Krystian,Jażdżewski ^[6] ; Anna,Wójcicka ^[2]

作者单位： 2nd Department of General Surgery, Jagiellonian University Medical College, Krakow, Poland.;University Hospital, Krakow, Poland. ^[1] Warsaw Genomics INC., Warszawa, Poland. ^[2] Department of Anatomy, Jagiellonian University Medical College, Kraków, Poland. ^[3] 2nd Department of General Surgery, Jagiellonian University Medical College, Krakow, Poland.;Department of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland. ^[4] Department of Medical Genetics, Jagiellonian University Medical College, Krakow, Poland. ^[5] Warsaw Genomics INC., Warszawa, Poland.;Laboratory of Human Cancer Genetics, University of Warsaw, Warsaw, Poland. ^[6]

关键词 BMPR1B brachydactyly human genetics mutation