Preimplantation genetic diagnosis of P450 oxidoreductase deficiency and Huntington Disease using three different molecular approaches simultaneously

Journal of Assisted Reproduction and Genetics

Volumn 26, Issue 5, 2009, Pages 263-271

  Alberola, Trinitat M ^a   Bautista Llácer, Rosa ^a   Fernández, Esther ^b,d   Vendrell, Xavier ^a   Pérez Alonso, Manuel ^c,e  

^a Sistemas Genomicos SL   (Spain)

^b IVF Laboratory Quirón Madrid   (Spain)

^c Parque Tecnológico de Valencia   (Spain)

^d PGD Laboratory Geniality   (Spain)

^e UNIVERSITY OF VALENCIA   (Spain)

Author keywords

Huntington Disease; Molecular PGD; Monogenic disease; P450 oxidoreductase deficiency; Preimplantation genetic diagnosis

Indexed keywords

CYTOCHROME P450 REDUCTASE;

ADULT; ARTICLE; BASE PAIRING; CASE REPORT; CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY; EMBRYO; EMBRYO TRANSFER; ENZYME DEFICIENCY; EXON; FEMALE; GENE; GENE INSERTION; GENETIC ANALYSIS; HETEROZYGOTE; HTT GENE; HUMAN; HUMAN CELL; HUNTINGTON CHOREA; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; NUCLEOTIDE SEQUENCE; POINT MUTATION; POR GENE; PREIMPLANTATION GENETIC DIAGNOSIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SHORT TANDEM REPEAT; TRINUCLEOTIDE REPEAT;

DNA MUTATIONAL ANALYSIS; EMBRYO TRANSFER; EXONS; FEMALE; GENETIC MARKERS; HUMANS; HUNTINGTON DISEASE; MALE; MICROSATELLITE REPEATS; MUTATION; NADPH-FERRIHEMOPROTEIN REDUCTASE; PEDIGREE; POINT MUTATION; PREGNANCY; PREIMPLANTATION DIAGNOSIS;

EID: 70349589679     PISSN: 10580468     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10815-009-9327-5     Document Type: Article

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