Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
about
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.Sweet and sour: an update on classic galactosemia.Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model.Impaired fertility and motor function in a zebrafish model for classic galactosemia.Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model.Experimental and computational evidence on conformational fluctuations as a source of catalytic defects in genetic diseases
P2860
Q30668563-3A007512-C388-4BAB-BC3F-10532F53DE12Q33563888-CF65CA2F-007C-4F8E-8162-061C1EEE4187Q36016885-B9FD60A7-E478-4589-ABD2-08AFE978E132Q41613503-5A8F3798-00A2-46FF-AAF3-8727A95B6455Q47947911-0F8F5FEF-E417-482F-B138-3CD22649E48EQ50436786-9C271AB6-5B35-4F95-A72E-6255DF6186C4Q57578372-839D491B-C4B5-4750-A337-85575DACC68B
P2860
Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Functional and structural impa ...... tions in classic galactosemia.
@en
Functional and structural impa ...... tions in classic galactosemia.
@nl
type
label
Functional and structural impa ...... tions in classic galactosemia.
@en
Functional and structural impa ...... tions in classic galactosemia.
@nl
prefLabel
Functional and structural impa ...... tions in classic galactosemia.
@en
Functional and structural impa ...... tions in classic galactosemia.
@nl
P2093
P2860
P50
P356
P1476
Functional and structural impa ...... tions in classic galactosemia.
@en
P2093
Ana I Coelho
Isabel Tavares de Almeida
Matilde Trabuco
Ruben Ramos
P2860
P304
P356
10.1002/MGG3.94
P577
2014-06-23T00:00:00Z