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
about
Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidusMolecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.Prolidase-proline dehydrogenase/proline oxidase-collagen biosynthesis axis as a potential interface of apoptosis/autophagy.Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion.Substrate specificity and reaction mechanism of human prolidase.
P2860
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
description
1991 nî lūn-bûn
@nan
1991 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Molecular defect in siblings w ...... r RNA and inactive polypeptide
@ast
Molecular defect in siblings w ...... r RNA and inactive polypeptide
@en
Molecular defect in siblings w ...... r RNA and inactive polypeptide
@nl
type
label
Molecular defect in siblings w ...... r RNA and inactive polypeptide
@ast
Molecular defect in siblings w ...... r RNA and inactive polypeptide
@en
Molecular defect in siblings w ...... r RNA and inactive polypeptide
@nl
prefLabel
Molecular defect in siblings w ...... r RNA and inactive polypeptide
@ast
Molecular defect in siblings w ...... r RNA and inactive polypeptide
@en
Molecular defect in siblings w ...... r RNA and inactive polypeptide
@nl
P2093
P2860
P356
P1476
Molecular defect in siblings w ...... r RNA and inactive polypeptide
@en
P2093
P2860
P304
P356
10.1172/JCI115115
P407
P577
1991-04-01T00:00:00Z