Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

Fibromuscular dysplasia (FMD) is a heterogeneous group of non-atherosclerotic and non-inflammatory arterial diseases that primarily involves the renal and cerebrovascular arteries. Grange syndrome is an autosomal-recessive condition characterized by severe and early-onset vascular disease similar to...

Celý popis

Uložené v:

Podrobná bibliografia
Vydané v:	American journal of human genetics Ročník 100; číslo 1; s. 21 - 30
Hlavní autori:	Guo, Dong-Chuan, Duan, Xue-Yan, Regalado, Ellen S, Mellor-Crummey, Lauren, Kwartler, Callie S, Kim, Dong, Lieberman, Kenneth, de Vries, Bert B A, Pfundt, Rolph, Schinzel, Albert, Kotzot, Dieter, Shen, Xuetong, Yang, Min-Lee, Bamshad, Michael J, Nickerson, Deborah A, Gornik, Heather L, Ganesh, Santhi K, Braverman, Alan C, Grange, Dorothy K, Milewicz, Dianna M
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	United States 05.01.2017
Predmet:	Adolescent Adult Bone and Bones - pathology Brachydactyly - genetics Cell Cycle Checkpoints - genetics Exome - genetics Female Fibromuscular Dysplasia - genetics Genes, Recessive Heterozygote Homozygote Humans Learning Disorders - genetics Male Middle Aged Muscle, Smooth, Vascular - metabolism Muscle, Smooth, Vascular - pathology Mutation Nuclear Proteins - genetics Pedigree Syndactyly - genetics Syndrome Transcription Factors - genetics
ISSN:	1537-6605
On-line prístup:	Zistit podrobnosti o prístupe
Tagy:	Pridať tag Žiadne tagy, Buďte prvý, kto otaguje tento záznam!

Buďte prvý, kto okomentuje tento záznam!