Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia

Prenatal Diagnosis

Volumn 30, Issue 3, 2010, Pages 207-211

  Malcov, Mira ^a   Reches, Adi ^a   Ben Yosef, Dalit ^a,b   Cohen, Tania ^a   Amit, Ami ^a,b   Dgany, Orly ^c   Tamary, Hannah ^b   Yaron, Yuval ^b,d  

^a LIS MATERNITY HOSPITAL   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c Schneider Medical Center   (Israel)

^d TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

Author keywords

ELA2 gene; Preimplantation genetic diagnosis (PGD); SCN 1; Severe congenital neutropenia; Somatic mosaicism

Indexed keywords

GENOMIC DNA;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE MARROW TRANSPLANTATION; ELA2 GENE; EMBRYO; FEMALE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC PARAMETERS; HAPLOTYPE; HLA TYPING; HUMAN; MALE; NEUTROPENIA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEVERE CONGENITAL NEUTROPENIA;

DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FATHERS; FEMALE; FERTILIZATION IN VITRO; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE DETECTION; HUMANS; LEUKOCYTE COUNT; MALE; MUTATION; NEUTROPENIA; NEUTROPHILS; PEDIGREE; PREIMPLANTATION DIAGNOSIS; RNA SPLICE SITES; SPERMATOZOA; TRANSCRIPTION FACTORS;

EID: 77349103408     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2437     Document Type: Article

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