Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
about
Variation in Human Cytochrome P-450 Drug-Metabolism Genes: A Gateway to the Understanding of Plasmodium vivax RelapsesmCSM-lig: quantifying the effects of mutations on protein-small molecule affinity in genetic disease and emergence of drug resistanceIn silico functional dissection of saturation mutagenesis: Interpreting the relationship between phenotypes and changes in protein stability, interactions and activity.Mycobacterium tuberculosis whole genome sequencing and protein structure modelling provides insights into anti-tuberculosis drug resistance.mCSM-NA: predicting the effects of mutations on protein-nucleic acids interactions.pkCSM: Predicting Small-Molecule Pharmacokinetic and Toxicity Properties Using Graph-Based Signatures.Arpeggio: A Web Server for Calculating and Visualising Interatomic Interactions in Protein StructuresGenomes, structural biology and drug discovery: combating the impacts of mutations in genetic disease and antibiotic resistance.SDM: a server for predicting effects of mutations on protein stability.Histological and Ultrastructural Characterization of Alkaptonuric Tissues.Combating mutations in genetic disease and drug resistance: understanding molecular mechanisms to guide drug design.mCSM-AB: a web server for predicting antibody-antigen affinity changes upon mutation with graph-based signaturesFamilial STAG2 germline mutation defines a new human cohesinopathy.Cytoskeleton Aberrations in Alkaptonuric Chondrocytes.Kinact: a computational approach for predicting activating missense mutations in protein kinases.DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability.Single Amino Acid Substitution in Homogentisate Dioxygenase Affects Melanin Production inFrequent transmission of the Mycobacterium tuberculosis Beijing lineage and positive selection for the EsxW Beijing variant in Vietnam
P2860
Q28553162-08A46753-643D-45BD-A992-249C4B480345Q28831145-7B2C479D-5C6A-46BA-BB5C-311B92E8F0CDQ30383747-73F1BD06-67BA-45A5-BD18-E1D9D5CAC27DQ30385967-8EFB0EFF-0F9A-4587-8C24-DA6241655BA1Q30400796-6C4766FF-5F60-4044-85A1-C0DBE5849358Q35599192-8CF213A6-CCB5-4AAD-99E7-AB6B0660FC48Q36222714-8E64F233-E25A-4C42-AA81-CD2530C5B70DQ38730555-0C34DF47-9F09-4F1F-9258-D72B5B8BA960Q38774417-44E1F198-46AB-44DF-A3F6-5687C97ADB8BQ38922014-0B3C0988-B8BE-4472-8997-52401D6C7484Q39296374-08E4F5BE-0479-40E6-95AF-757D28749EBDQ41723015-BB1F65FE-6A48-4C14-B513-FBAE7E8EB5C6Q47165215-E85AA6EB-CD1A-4B29-B7A6-1E4CDD4F9137Q51618833-85538203-27CC-4D03-A18E-A2C063C554D4Q54978537-55B6ECA7-91D8-4E4D-87E5-E6B811AB592CQ55479193-098EE279-8E4E-411E-A02F-21FC6E05D106Q58573048-0F24D871-5098-4BDF-A039-05E9C7712072Q58870291-EDD21A94-367E-4E53-ACF1-8732CB40F988
P2860
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Twelve novel HGD gene variants ...... 'black bone disease' in Italy.
@ast
Twelve novel HGD gene variants ...... 'black bone disease' in Italy.
@en
type
label
Twelve novel HGD gene variants ...... 'black bone disease' in Italy.
@ast
Twelve novel HGD gene variants ...... 'black bone disease' in Italy.
@en
prefLabel
Twelve novel HGD gene variants ...... 'black bone disease' in Italy.
@ast
Twelve novel HGD gene variants ...... 'black bone disease' in Italy.
@en
P2093
P2860
P50
P356
P1476
Twelve novel HGD gene variants ...... 'black bone disease' in Italy
@en
P2093
Alessandro Mannoni
Andrea Zatkova
Anthony K Hall
Berardino Porfirio
Birgitta Olsson
Caterina Aurizi
Charles Marques Lourenço
Christa van Kan
Fiammetta Sorge
Gianfranco Biolcati
P2860
P2888
P356
10.1038/EJHG.2015.60
P50
P577
2015-03-25T00:00:00Z