Characterization of two heterozygous mutations of the oocyte activation factor phospholipase C zeta (PLCζ) from an infertile man by use of minisequencing of individual sperm and expression in somatic cells

Fertility and Sterility

Volumn 98, Issue 2, 2012, Pages 423-431

  Kashir, Junaid ^a   Konstantinidis, Michalis ^a   Jones, Celine ^a   Heindryckx, Bjorn ^b   De Sutter, Petra ^b   Parrington, John ^c   Wells, Dagan ^a   Coward, Kevin ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Infertility; mutation; oocyte activation; phospholipase C zeta (PLCzeta); sperm

Indexed keywords

PHOSPHOLIPASE C; PHOSPHOLIPASE C ZETA; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOUS MUTATION; HUMAN; HUMAN CELL; MALE; MALE INFERTILITY; PRIORITY JOURNAL; SOMATIC CELL; SPERM;

ADULT; ALLELES; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HEK293 CELLS; HETEROZYGOTE DETECTION; HUMANS; INFERTILITY, MALE; MALE; MUTATION; OOCYTES; PHOSPHOINOSITIDE PHOSPHOLIPASE C; SEQUENCE ANALYSIS, DNA; SPERMATOZOA;

EID: 84864469957     PISSN: 00150282     EISSN: 15565653     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2012.05.002     Document Type: Article

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