Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus
about
Obesity genetics in mouse and human: back and forth, and back againRich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins.Defective transport of the obesity mutant PC1/3 N222D contributes to loss of function.A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies.PCSK1 Variants and Human Obesity.Ethnic and population differences in the genetic predisposition to human obesity.Common variants in PCSK1 influence blood pressure and body mass index.
P2860
Q26782027-BDDA7934-044D-4A97-8C62-70080F349786Q30360180-FFD3DB5F-5AC2-4A19-BDAF-95ACC0ECED99Q33765468-BE6A3921-B936-482D-A70C-28CF4AB9A85AQ34278445-7460252E-46B8-4E41-AB6D-DB5534233040Q38381588-C576FC72-80E3-4ED1-AC22-734A1CEA69C4Q38862134-3B55A7F9-DC7A-4D20-9918-468B89BB2B9FQ41986515-D46411EB-668A-44D1-A753-AA550573864AQ51318889-16B7ADCE-911A-4E08-85DE-8A18F45C333D
P2860
Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus
description
2013 nî lūn-bûn
@nan
2013 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
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2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
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Exome sequencing finds a novel ...... iarrhea and diabetes insipidus
@ast
Exome sequencing finds a novel ...... iarrhea and diabetes insipidus
@en
Exome sequencing finds a novel ...... iarrhea and diabetes insipidus
@nl
type
label
Exome sequencing finds a novel ...... iarrhea and diabetes insipidus
@ast
Exome sequencing finds a novel ...... iarrhea and diabetes insipidus
@en
Exome sequencing finds a novel ...... iarrhea and diabetes insipidus
@nl
prefLabel
Exome sequencing finds a novel ...... iarrhea and diabetes insipidus
@ast
Exome sequencing finds a novel ...... iarrhea and diabetes insipidus
@en
Exome sequencing finds a novel ...... iarrhea and diabetes insipidus
@nl
P2093
P2860
P1476
Exome sequencing finds a novel ...... iarrhea and diabetes insipidus
@en
P2093
Anna Pawlikowska-Haddal
Galen Cortina
Howard Baron
Iris Lindberg
Jiafang Wang
Lindsay A Pickett
Martín G Martín
R Sergio Solorzano-Vargas
Robert S Venick
Stanley F Nelson
P2860
P304
P356
10.1097/MPG.0B013E3182A8AE6C
P407
P577
2013-12-01T00:00:00Z