Polar Body-Based Preimplantation Genetic Diagnosis for N-Acetylglutamate Synthase Deficiency

Objective: We describe a sensitive and highly reliable preimplantation genetic diagnosis (PGD) assay for N-acetylglutamate synthetase (NAGS) deficiency using polar body (PB) analysis in conjunction with multiple markers flanking the gene. This rare autosomal recessive mitochondrial disorder is chara...

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Veröffentlicht in:	Fetal diagnosis and therapy 2008-01, Vol.24 (3), p.170-176
Hauptverfasser:	Altarescu, G., Brooks, B., Eldar-Geva, T., Margalioth, E.J., Singer, A., Levy-Lahad, E., Renbaum, P.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino-Acid N-Acetyltransferase - deficiency Amino-Acid N-Acetyltransferase - genetics Biological and medical sciences Blastocyst - cytology Chromosomes, Human, Pair 17 Deficiency Diseases - diagnosis Deficiency Diseases - genetics Delivery. Postpartum. Lactation Female General aspects Gynecology. Andrology. Obstetrics Haplotypes Humans Medical sciences Pedigree Point Mutation Polymerase Chain Reaction Pregnancy Preimplantation Diagnosis - methods Sensitivity and Specificity
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