Successful Pregnancy Following Preimplantation Genetic Diagnosis of Adrenoleukodystrophy by Detection of Mutation on the ABCD1 Gene
Author:
Publisher
Informa UK Limited
Subject
Genetics(clinical),Genetics
Reference43 articles.
1. The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis
2. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
3. Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina
4. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
5. Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Preimplantation Genetic Testing Inhibits the Transmission of Pathogenic Variants Associated With Cerebral White Matter Disease;Cureus;2024-07-23
2. ATP and Substrate Binding Regulates Conformational Changes of Human Peroxisomal ABC Transporter ALDP;2021-10-14
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