BIODEF BIODEF BIOMDB BIOPKU JAKEdb BH4 Literature Research

PNDGEN : Locus-Specific Database of Variants Causing BH4 Deficiencies and other PND (former BIOMDB)

 

 

 

 

 

DATABASE MANAGERS

Nenad Blau, Heidelberg, Germany

Beat Thöny, Zürich, Switzerland

 

CONSORTIUM MEMBERS

Carla Carducci
Sapienza University of Rome
Rome, Italy

Eduardo López-Laso
Univ. Hosp. Reina Sofía
Córdoba, Spain

 


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

Genomic organization and location of variants in PNPO gene

Genomic organization and location of variants in ALDH7A1 gene