Associated Papers
Preimplantation Genetic Testing Inhibits the Transmission of Pathogenic Variants Associated With Cerebral White Matter Disease.
Huang X et al.
Cureus, 2024
Molecular diagnosis of X-linked adrenoleukodystrophy: experience from a clinical genetic laboratory in mainland China with report of 13 novel mutations.
Lan F et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
Two novel multiple mutations in chinese patients with adrenoleukodystrophy.
Ke LF et al.
Neuropediatrics, 2010
X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.
Coll MJ et al.
Clinical Genetics, 2005
Select a paper to view details