Two novel mutations identified in familial cases with Donohue syndrome
about
Metabolites involved in glycolysis and amino acid metabolism are altered in short children born small for gestational age.Sequence variation in PPP1R13L results in a novel form of cardio-cutaneous syndrome.Genetic analysis of hereditary gingival fibromatosis using whole exome sequencing and bioinformatics.Donohue syndrome and use of continuous subcutaneous insulin pump therapy.One novel 2.43Kb deletion and one single nucleotide mutation of the INSR gene in a Chinese neonate with Rabson-Mendenhall syndrome.Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature.
P2860
Two novel mutations identified in familial cases with Donohue syndrome
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh
2013年學術文章
@zh-hant
name
Two novel mutations identified in familial cases with Donohue syndrome
@en
Two novel mutations identified in familial cases with Donohue syndrome.
@nl
type
label
Two novel mutations identified in familial cases with Donohue syndrome
@en
Two novel mutations identified in familial cases with Donohue syndrome.
@nl
prefLabel
Two novel mutations identified in familial cases with Donohue syndrome
@en
Two novel mutations identified in familial cases with Donohue syndrome.
@nl
P2093
P2860
P356
P1476
Two novel mutations identified in familial cases with Donohue syndrome
@en
P2093
Aharon Klar
Dvora Bauman
Efrat Wertheimer
Emelia Chechik
Eva Gross-Kieselstein
Gal Meidan
Galina Weingarten
Haggit Hurvitz
Limor Kalfon
Mordechai Ben Elisha
P2860
P356
10.1002/MGG3.43
P577
2013-11-14T00:00:00Z