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Tyrosine Hydroxylase Deficiency due to a Compound-heterozygote Mutation with One Kwon Mutation and One Previously not Described Variant on the TH-Gen

Authors :
Charlotte Thiels
C. Köhler
T. Lücke
Kristine Adam
Source :
Neuropediatrics.
Publication Year :
2019
Publisher :
Georg Thieme Verlag KG, 2019.

Subjects

Subjects :
Tyrosine hydroxylase
Mutation (genetic algorithm)
Biology
Compound heterozygosity
Molecular biology

Details

ISSN :
14391899
Database :
OpenAIRE
Journal :
Neuropediatrics
Accession number :
edsair.doi...........90e8f9830abc7b54d465501b2920b9d7
Full Text :
https://doi.org/10.1055/s-0039-1698229
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