hgddatabase.cvtisr.sk

HGD homepage - HGD mutation database - Leiden Open Variation Database

Homogentisate 1,2-dioxygenase (HGD). LOVD v.2.0 Build 36 [ Current LOVD status. Curator: Dr. Andrea Zatkova. View all (unique) PubMed references. In the HGD database. October 24, 2010. January 02, 2018. Submit a sequence variant. Coding DNA reference sequence. For describing sequence variants. Total number of unique DNA variants reported. Total number of individuals with variant(s). Total number of variants reported. Subscribe to updates of this gene. More data can be downloaded here:. Summary of all seq...

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HGD homepage - HGD mutation database - Leiden Open Variation Database | hgddatabase.cvtisr.sk Reviews

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Homogentisate 1,2-dioxygenase (HGD). LOVD v.2.0 Build 36 [ Current LOVD status. Curator: Dr. Andrea Zatkova. View all (unique) PubMed references. In the HGD database. October 24, 2010. January 02, 2018. Submit a sequence variant. Coding DNA reference sequence. For describing sequence variants. Total number of unique DNA variants reported. Total number of individuals with variant(s). Total number of variants reported. Subscribe to updates of this gene. More data can be downloaded here:. Summary of all seq...

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HGD homepage - HGD mutation database - Leiden Open Variation Database | hgddatabase.cvtisr.sk Reviews

https://hgddatabase.cvtisr.sk

Homogentisate 1,2-dioxygenase (HGD). LOVD v.2.0 Build 36 [ Current LOVD status. Curator: Dr. Andrea Zatkova. View all (unique) PubMed references. In the HGD database. October 24, 2010. January 02, 2018. Submit a sequence variant. Coding DNA reference sequence. For describing sequence variants. Total number of unique DNA variants reported. Total number of individuals with variant(s). Total number of variants reported. Subscribe to updates of this gene. More data can be downloaded here:. Summary of all seq...

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hgddatabase.cvtisr.sk

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Submit new data - HGD mutation database - Leiden Open Variation Database

http://hgddatabase.cvtisr.sk/submit.php

LOVD v.2.0 Build 36 [ Current LOVD status. To access this area, you need to log in. If you are not registered as a submitter, please do so here. Powered by LOVD v.2.0. 2004-2014 Leiden University Medical Center.

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Register as submitter - HGD mutation database - Leiden Open Variation Database

http://hgddatabase.cvtisr.sk/submitters.php?action=register

LOVD v.2.0 Build 36 [ Current LOVD status. Public list of submitters. To register as a new submitter, please fill out the form below. Please note that you do NOT. Need to register to view the data available at these pages. You only need an account for submitting new variants. In addition to your full address, please enter the city for sorting purposes. British Indian Ocean Territory. Cote D'Ivoire (Ivory Coast). Heard and McDonald Islands. Korea (North) (People's Republic). Saint Kitts and Nevis.

3

Database statistics - HGD mutation database - Leiden Open Variation Database

http://hgddatabase.cvtisr.sk/variants_statistics.php

Homogentisate 1,2-dioxygenase (HGD). LOVD v.2.0 Build 36 [ Current LOVD status. Curator: Dr. Andrea Zatkova. Variant listing based on patient origin. 4 / 475 bp. 17 / 6233 bp. 13 / 72 bp. 19 / 802 bp. 71 / 89 bp. 6 / 4368 bp. 14 / 106 bp. 6 / 17775 bp. 5 / 60 bp. 17 / 1726 bp. 77 / 92 bp. 1 / 2862 bp. 34 / 35 bp. 16 / 824 bp. 114 / 80 bp. 3 / 606 bp. 13 / 100 bp. 8 / 1823 bp. 58 / 125 bp. 37 / 105 bp. 1 / 3007 bp. 34 / 127 bp. 5 / 5126 bp. 121 / 182 bp. 6 / 4617 bp. 12 / 362 bp. Confirmed: 4 predicted: 10.

4

homogentisate 1,2-dioxygenase (HGD) - coding DNA reference sequence

http://hgddatabase.cvtisr.sk/refseq/HGD_codingDNA.html

Homogentisate 1,2-dioxygenase (HGD) - coding DNA reference sequence. Used for mutation description). Last modified January 20, 2011). This file was created to facilitate the description of sequence variants in the HGD gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG 011957.1. Covering HGD transcript NM 000187.3. Please note that introns are available by clicking on the exon numbers above the sequence. G12525 TGCCCAGGTTCCCTGCCAGAAGGACAG AA TAA.

5

HGD homepage - HGD mutation database - Leiden Open Variation Database

http://hgddatabase.cvtisr.sk/variants.php?select_db=HGD&action=view_all

Homogentisate 1,2-dioxygenase (HGD). LOVD v.2.0 Build 36 [ Current LOVD status. Curator: Dr. Andrea Zatkova. View all (unique) PubMed references. In the HGD database. October 24, 2010. June 28, 2016. Submit a sequence variant. Coding DNA reference sequence. For describing sequence variants. Total number of unique DNA variants reported. Total number of individuals with variant(s). Total number of variants reported. Subscribe to updates of this gene. More data can be downloaded here:. Summary of all sequen...

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Una importante ricerca genetica su pazienti italiani - aimAKU - Associazione Italiana Malati Alcaptonuria

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Una importante ricerca genetica su pazienti italiani. Una importante ricerca genetica su pazienti italiani. Qui di seguito un riassunto in italiano del lavoro che è stato pubblicato sull'importante rivista European Journal of Human Genetics:. Ed in 99 alkaptonuria patients: focus on. M Nemethova, J Radvanszky, L Kadasi. DB Ascher, DEV Pires,T L Blundell, B Por. European Journal of Human Genetics. Advance online publication, 25 March 2015; doi:10.1038/ejhg.2015.60. Come errore congenito del metabolismo ,.

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hgddatabase.cvtisr.sk

HGD homepage - HGD mutation database - Leiden Open Variation Database

Homogentisate 1,2-dioxygenase (HGD). LOVD v.2.0 Build 36 [ Current LOVD status. Curator: Dr. Andrea Zatkova. View all (unique) PubMed references. In the HGD database. October 24, 2010. January 02, 2018. Submit a sequence variant. Coding DNA reference sequence. For describing sequence variants. Total number of unique DNA variants reported. Total number of individuals with variant(s). Total number of variants reported. Subscribe to updates of this gene. More data can be downloaded here:. Summary of all seq...

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