Severe combined immunodeficiency (SCID): From the detection of a new mutation to preimplantation genetic diagnosis

Journal of Assisted Reproduction and Genetics

Volumn 29, Issue 7, 2012, Pages 687-692

  Tomashov Matar, Reut ^a   Biran, Galia ^a   Lagovsky, Irina ^a,b   Kotler, Neomi ^a   Stein, Anat ^a   Fisch, Benjamin ^a   Sapir, Onit ^a   Shohat, Mordechai ^a,b  

^a RABIN MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

Artemis; Autosomal recessive; DCLRE1C; Homozygosity; Immunodeficiency

Indexed keywords

CYSTEINE;

ALLELE; ARAB; ARTICLE; BLASTOMERE; CHROMOSOME 10P; CONTROLLED STUDY; DNA CROSS LINK REPAIR PROTEIN 1 C GENE; EMBRYO; EXON; FEMALE; GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; MULTIPLEX POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEVERE COMBINED IMMUNODEFICIENCY; WILD TYPE;

BASE SEQUENCE; FEMALE; FERTILIZATION IN VITRO; HUMANS; MALE; MUTATION; NUCLEAR PROTEINS; PREGNANCY; PREGNANCY COMPLICATIONS; PREIMPLANTATION DIAGNOSIS; SEQUENCE ANALYSIS, DNA; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 84864945088     PISSN: 10580468     EISSN: 15737330     Source Type: Journal    
DOI: 10.1007/s10815-012-9765-3     Document Type: Article

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