ISSN:
1435-232X
Schlagwort(e):
Key words PEPD
;
Prolidase deficiency
;
Mutation
;
Polymorphism
;
Nonsense mutation
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Biologie
,
Medizin
Notizen:
Abstract A nonsense mutation at amino acid residue 184 in the human peptidase D (PEPD) gene caused the production of a truncated polypeptide. Characterizing molecular defects in patients provides clues to elucidate the relationship between the phenotype and the genotype.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/s100380050023
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