rs1357012145, LIPF

N. diseases: 1
Disease: Wolman Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Wolman Disease
CUI: C0043208
Disease: Wolman Disease
0.010 GeneticVariation BEFREE DNA sequence and restriction fragment length polymorphism analysis demonstrated that the patient was a compound heterozygote for the prevalent CESD exon 8 splice site mutation (G934A) and the deletion of a C (nucleotide 673, 674, or 675) in exon 6 of the hLAL gene, resulting in premature termination of protein translation at residue 195. 10735626 2000