The first successful live birth following preimplantation genetic diagnosis using PCR for type 1 citrullinemia

Type 1 citrullinemia (CTLN1) is an autosomal recessive inherited metabolic disorder caused by anargininosuccinicnate synthetase deficiency. The patient was a 38-year-old Korean woman who is a carrier for CTLN1 and her first baby was diagnosed with CTLN1. Preimplantation genetic diagnosis (PGD) for C...

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Hlavní autoři: Cho, Jae-Hyun, Kim, Chung-Hoon, Lee, Kyung-Hee, Jeon, Il-Kyung, Kim, Jae-Min, Kang, Byung-Moon
Médium: Artigo
Jazyk:Inglês
Vydáno: Korean Society of Obstetrics and Gynecology; Korean Society of Contraception and Reproductive Health; Korean Society of Gynecologic Endocrinology; Korean Society of Gynecologic Endoscopy and Minimal Invasive Surgery; Korean Society of Maternal Fetal Medicine; Korean Society of Ultrasound in Obstetrics and Gynecology; Korean Urogynecologic Society 2014
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4038694/
https://ncbi.nlm.nih.gov/pubmed/24883299
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5468/ogs.2014.57.3.244
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