PAH BIODEF PND BIOPKU JAKEdb BH4 Literature Research

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

 

  Supported by: iNTD

 

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 MAOA gene

Genomic organization and location of variants in DBH gene

Genomic organization and location of variants in ALDH7A1 gene

Genomic organization and location of variants in SLC6A3 gene

Genomic organization and location of variants in SLC18A2 gene

Genomic organization and location of variants in FOLR1 gene

Genomic organization and location of variants in DHFR gene

GENES INCLUDED

GCH1 (Gene Card)

PTS (Gene Card)

SPR (Gene Card)

QDPR (Gene Card)

PCBD1 (Gene Card)

TH (Gene Card)

DDC (Gene Card)

PNPO (Gene Card)

MAOA (Gene Card)

DBH (Gene Card)

ALDH7A1 (Gene Card)

SLC6A3 (Gene Card)

SLC18A2 (Gene Card)

FOLR1 (Gene Card)

DHFR (Gene Card)


DATABASE MANAGERS

Coordinator

Nenad Blau, Heidelberg, Germany

GCH1, PTS, SPR, QDPR, PCBD1, DBH, MAOA

Corinne Britschgi, Zurich, Switzerland

Beat Thöny, Zürich, Switzerland

TH, DDC

Carla Carducci, Rome, Italy

PNPO, ALDH7A1

Clare Beesley, London, UK

Phillipa Mills, London, UK

SLC6A3, SLC18A2

Manju Kurian, London, UK

Esther Meyer, London, UK

FOLR1, DHFR

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CONSORTIUM MEMBERS

Corinne Britschgi
University Children's Hospital Zürich
Zürich, Switzerland

Carla Carducci
Sapienza University of Rome
Rome, Italy

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

Elisabetta Salvatici
Clinical Department of Pediatrics
Milan, Italy