PAH BIODEF PND BIOPKU JAKEdb BH4 Literature Research

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)

TH (Gene Card)

DDC (Gene Card)


DATABASE MANAGERS

Coordinator

Nenad Blau, Zurich, Switzerland

Beat Thöny, Zürich, Switzerland