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1.
Cubilin, a high affinity receptor for fibroblast growth factor 8, is required for cell survival in the developing vertebrate head.
J Biol Chem
; 288(23): 16655-16670, 2013 Jun 07.
Article
in English
| MEDLINE | ID: mdl-23592779
2.
Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome.
BMC Med Genet
; 14: 111, 2013 Oct 24.
Article
in English
| MEDLINE | ID: mdl-24156255
3.
Cubilin is essential for albumin reabsorption in the renal proximal tubule.
J Am Soc Nephrol
; 21(11): 1859-67, 2010 Nov.
Article
in English
| MEDLINE | ID: mdl-20798259
4.
Diagnosis scoring for clinical identification of children with heterozygous familial hypercholesterolemia.
J Pediatr Gastroenterol Nutr
; 48(4): 456-63, 2009 Apr.
Article
in English
| MEDLINE | ID: mdl-19330934
5.
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.
Hum Mutat
; 26(5): 497, 2005 Nov.
Article
in English
| MEDLINE | ID: mdl-16211558
6.
Magnitude of HDL cholesterol variation after high-dose atorvastatin is genetically determined at the LDL receptor locus in patients with homozygous familial hypercholesterolemia.
Arterioscler Thromb Vasc Biol
; 23(11): 2078-82, 2003 Nov 01.
Article
in English
| MEDLINE | ID: mdl-14512370
7.
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.
Hum Genet
; 111(6): 501-10, 2002 Dec.
Article
in English
| MEDLINE | ID: mdl-12436241
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