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Q34181756-07A95C69-35B5-412E-8339-DF13BEFF89BB
Q34181756-07A95C69-35B5-412E-8339-DF13BEFF89BB
BestRank
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http://www.wikidata.org/entity/statement/Q34181756-07A95C69-35B5-412E-8339-DF13BEFF89BB
Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms. A 0.8-kb deletion with breakpoints at the short, direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptide
P2860
Q34181756-07A95C69-35B5-412E-8339-DF13BEFF89BB
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34181756-07A95C69-35B5-412E-8339-DF13BEFF89BB
rank
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type
BestRank
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wasDerivedFrom
0831065ca79db791d2087d23815b0b1271a98aaf
P2860
A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells