Kohl, Stefan

Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. [electronic resource] - Journal of the American Society of Nephrology : JASN Sep 2014 - 1917-22 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1533-3450

10.1681/ASN.2013101103 doi


Animals
Carrier Proteins--genetics
Congenital Abnormalities--genetics
Disease Models, Animal
Extracellular Matrix Proteins--genetics
Female
Fraser Syndrome--genetics
Genes, Recessive
Humans
Integrin alpha Chains--genetics
Intercellular Signaling Peptides and Proteins--genetics
Kidney--abnormalities
Kidney Diseases--congenital
Male
Mice
Mice, Mutant Strains
Mutation
Nerve Tissue Proteins--genetics
Receptors, Interleukin--genetics
Urinary Tract--abnormalities
Urogenital Abnormalities
Vesico-Ureteral Reflux--genetics