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Document type:
journal article 
Author(s):
Hasselbacher, K; Wiggins, RC; Matejas, V; Hinkes, BG; Mucha, B; Hoskins, BE; Ozaltin, F; Nürnberg, G; Becker, C; Hangan, D; Pohl, M; Kuwertz-Bröking, E; Griebel, M; Schumacher, V; Royer-Pokora, B; Bakkaloglu, A; Nürnberg, P; Zenker, M; Hildebrandt, F 
Title:
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. 
Abstract:
Congenital nephrotic syndrome is clinically and genetically heterogeneous. The majority of cases can be attributed to mutations in the genes NPHS1, NPHS2, and WT1. By homozygosity mapping in a consanguineous family with isolated congenital nephrotic syndrome, we identified a potential candidate region on chromosome 3p. The LAMB2 gene, which was recently reported as mutated in Pierson syndrome (microcoria-congenital nephrosis syndrome; OMIM #609049), was located in the linkage interval. Sequenci...    »
 
Journal title abbreviation:
Kidney Int 
Year:
2006 
Journal volume:
70 
Journal issue:
Pages contribution:
1008-12 
Language:
eng 
Print-ISSN:
0085-2538 
TUM Institution:
Kinderklinik und Poliklinik