Functional analysis of BMP4 mutations identified in pediatric CAKUT patients

Human congenital anomalies of the kidney and urinary tract (CAKUT) represent the major causes of chronic renal failure (CRF) in children. This set of disorders comprises renal agenesis, hypoplasia, dysplastic or double kidneys, and/or malformations of the ureter. It has recently been shown that muta...

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Veröffentlicht in:	PEDIATRIC NEPHROLOGY 2009-12, Vol.24 (12), p.2361-2368
Hauptverfasser:	Tabatabaeifar, Mansoureh, Schlingmann, Karl-Peter, Litwin, Mieczyslaw, Emre, Sevinc, Bakkaloglu, Aysin, Mehls, Otto, Antignac, Corinne, Schaefer, Franz, Weber, Stefanie
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Bone Morphogenetic Protein 4 - analysis Bone Morphogenetic Protein 4 - genetics Bone Morphogenetic Protein 4 - metabolism Cell Line Cercopithecus aethiops Child Computational Biology - methods Computer Simulation COS Cells Epitopes Fluorescent Antibody Technique, Indirect Genetic Vectors Hospitals Humans Kidney - abnormalities Kidney - cytology Kidneys Lysosomes - metabolism Medicine & Public Health Mutagenesis Mutagenesis, Site-Directed Mutation Mutation, Missense Nephrology Original Article Pediatrics Proteins RNA, Messenger - analysis Subcellular Fractions - metabolism Transfection Urinary Tract - abnormalities Urogenital system Urology
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