Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28

Preimplantation genetic diagnosis (PGD) first consisted of the selection of female embryos for patients at risk of transmitting X-linked recessive diseases. Advances in molecular biology now allow the specific diagnosis of almost any Mendelian disease. For families with an identified X-linked recess...

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Veröffentlicht in:	Human genetics 2004-02, Vol.114 (3), p.298-305
Hauptverfasser:	GIGAREL, Nadine, FRYDMAN, Nelly, BURLET, Philippe, KERBRAT, Violaine, STEFFANN, Julie, FRYDMAN, René, MUNNICH, Arnold, RAY, Pierre F
Format:	Artikel
Sprache:	eng
Schlagworte:	Adrenoleukodystrophy - diagnosis Adrenoleukodystrophy - genetics Biological and medical sciences Blood coagulation factor VIII Classical genetics, quantitative genetics, hybrids Disease Disease transmission Errors of metabolism Fatty acids Female Females Fundamental and applied biological sciences. Psychology Genes Genes, Recessive Genetic Counseling Genetic Diseases, X-Linked - diagnosis Genetic engineering Genetics of eukaryotes. Biological and molecular evolution Hematologic and hematopoietic diseases Hemophilia Hemophilia A - diagnosis Hemophilia A - genetics Heterozygote Human Humans Hydrocephalus Hydrocephalus - diagnosis Hydrocephalus - genetics Incontinentia Pigmenti - diagnosis Incontinentia Pigmenti - genetics Lipids (lysosomal enzyme disorders, storage diseases) Localization Lymphocytes - cytology Male Medical sciences Metabolic diseases Microsatellite Repeats Mutation Nucleic Acid Amplification Techniques - methods Patients Pedigree Platelet diseases and coagulopathies Pregnancy Preimplantation Diagnosis - methods X chromosomes
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