Rapidly screening variants of uncertain significance in the MAP3K1 gene for phenotypic effects

Clinical Genetics

Volumn 81, Issue 3, 2012, Pages 272-277

  Loke, J ^a   Ostrer, H ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

Disorders of sex development; Flow cytometry; MAP kinases; Variants of uncertain significance; Western blots

Indexed keywords

MAP3K1 PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DAUDI CELL; FLOW CYTOMETRY; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GONADAL DYSGENESIS; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN INTERACTION; PROTEIN PROCESSING;

CELLS, CULTURED; FLOW CYTOMETRY; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; GENETIC VARIATION; GONADAL DYSGENESIS; HUMANS; IMMUNOPRECIPITATION; MALE; MAP KINASE KINASE KINASE 1; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84856428168     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01834.x     Document Type: Article

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