BIOPKU :: International Database of Patients and Mutations causing BH4-responsive HPA/PKU

Databases

General Information

PNDdb : Locus-Specific Database of Gene Variants Causing BH4 Deficiencies and related PND (formerly BIOMDB)

DOWNLOADABLE DOCUMENTS

Genomic organization and location of variants in GCH1 gene

Genomic organization and location of varients in PTS gene

Genomic organization and location of variants in SPR gene

Genomic organization and location of variants in QDPR gene

Genomic organization and location of variants in PCBD gene

Genomic organization and location of variants in TH gene

Genomic organization and location of variants in DDC gene

GENES INCLUDED

GCH1 (Gene Card)

PTS (Gene Card)

SPR (Gene Card)

QDPR (Gene Card)

PCBD1 (Gene Card)

DDC (Gene Card)

DATABASE MANAGERS

Coordinator

Nenad Blau, Zurich, Switzerland

Beat Thöny, Zürich, Switzerland

Copyright Notice

This Database despite being open to public access, is subject to copyright.
Any use of data contained within this web site must receive appropriate acknowledgement and credit, meaning you should cite the URL as follows:

Name of the database (e.g. PAHvdb, BIODEF, BIOPKU, JAKE or PNDdb) and http://www.biopku.org

Confidentiality of data relating to individual patients and visitors to the BioPKU Web site, including their identity, is respected by this web site. The web site owners undertake to honour or exceed the legal requirements of medical/ health information privacy that apply in the country and state where the web site and mirror sites are located.

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