Associated Papers
Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.
Pilania RK et al.
Frontiers in Immunology, 2022
ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.
Maia-Lopes S et al.
Molecular Vision, 2009
X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.
Lexner MO et al.
Clinical Genetics, 2008
Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
Myerowitz R
Human Mutation, 1997
Select a paper to view details