Reactome | N�rnberg, P

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N�rnberg, P Show undefined attributes

created	[InstanceEdit:1979981] Rothfels, K, 2011-11-08
dbId	1979982
displayName	N�rnberg, P
firstname	Peter
initial	P
publications	[LiteratureReference:3636854] Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement [LiteratureReference:3928676] Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism [LiteratureReference:2471628] Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy [LiteratureReference:5688173] Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure [LiteratureReference:5638214] Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin [LiteratureReference:3621752] Faulty initiation of proteoglycan synthesis causes cardiac and joint defects [LiteratureReference:3000283] Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism [LiteratureReference:2453832] Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation [LiteratureReference:5679070] A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease [LiteratureReference:1982028] Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancer
schemaClass	Person
surname	N�rnberg

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