Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair

Journal of Medical Genetics

Volumn 49, Issue 4, 2012, Pages 242-245

  Casey, Jillian P ^a,b   Nobbs, Michael ^c   McGettigan, Paul ^b   Lynch, SallyAnn ^a   Ennis, Sean ^a,b  

^a OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^b UNIVERSITY COLLEGE DUBLIN   (Ireland)

^c SOUTHMEAD HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; ATR PROTEIN;

ADULT; ARTICLE; CELL FUNCTION; CHILD; CHROMOSOME 8P; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DNA REPAIR; DNA STRAND BREAKAGE; FAMILIAL DISEASE; FAMILIAL GLUCOCORTICOID DEFICIENCY; FAMILY HISTORY; FANCONI ANEMIA; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; IMMUNE DEFICIENCY; IRELAND; MALE; MCM4 GENE; NATURAL KILLER CELL; NATURAL KILLER CELL DEFICIENCY; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PRKDC GENE; RECESSIVE GENE; RECURRENT DISEASE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TRAVEL; VIRUS INFECTION;

CELL CYCLE PROTEINS; CONSANGUINITY; DNA REPAIR; DNA-ACTIVATED PROTEIN KINASE; DNA-BINDING PROTEINS; FEMALE; GENES, RECESSIVE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; IRELAND; MALE; MUTATION; NUCLEAR PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICE SITES;

MUS;

EID: 84864097350     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-100803     Document Type: Article

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