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Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum
Human Molecular Genetics, 07/28/09
Williams SE et al. – FJHN–causing Uromodulin mutants are retained in the ER, with impaired intracellular maturation and trafficking, thereby indicating mechanisms whereby Uromodulin mutants may cause the phenotype of FJHN.
Today in Basic Science/Genetics...keeping you current
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Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI
Diabetes, 11/25/09
Axenfeld-Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion
Pediatric Blood & Cancer, 11/25/09
The development and piloting of the ISPCAN Child Abuse Screening Tool-Parent version (ICAST-P)
Child Abuse and Neglect, 11/24/09
Today in Nephrology/Urology...keeping you current
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Newborn Population Screening for Classic Homocystinuria by Determination of Total Homocysteine from Guthrie Cards
The Journal of Pediatrics, 11/23/09
Hypospadias repair and glans augmentation using a modified Mathieu technique
Pediatric Surgery International, 11/20/09
Embryonal carcinoma in a cryptorchid testis of a 3-year old
Pediatric Surgery International, 11/20/09
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