Tyrosinemia type 1 ? complex splicing defects and a missense mutation in the fumarylacetoacetase gene
Year: 1994
Type: article
Study design: Case Report
Source: Human Genetics
DOI: 10.1007/bf00208276
Authors: Helge Rootwelt, Tom Kristensen, Ruud Berger, Kari H�ie, EliAnne Kvittingen
Institutions: University of Oslo, Wilhelmina Children's Hospital
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W2008483689