A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

PLoS Genetics

Volumn 9, Issue 8, 2013, Pages

  Ballew, Bari J ^a   Joseph, Vijai ^b   De, Saurav ^b   Sarek, Grzegorz ^c   Vannier, Jean Baptiste ^c   Stracker, Travis ^b   Schrader, Kasmintan A ^b   Small, Trudy N ^b   O'Reilly, Richard ^b   Manschreck, Chris ^b   Harlan Fleischut, Megan M ^b   Zhang, Liying ^b   Sullivan, John ^b   Stratton, Kelly ^b   Yeager, Meredith ^d   Jacobs, Kevin ^d   Giri, Neelam ^a   Alter, Blanche P ^a   Boland, Joseph ^d   Burdett, Laurie ^d   Offit, Kenneth ^b   Boulton, Simon J ^c   Savage, Sharon A ^a   Petrini, John H J ^b   more..

^a NATIONAL CANCER INSTITUTE   (United States)

^b MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^c IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^d SAIC FREDERICK INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MITOMYCIN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; DNA REPLICATION; DYSKERATOSIS CONGENITA; ENTEROPATHY; FAMILY ASSESSMENT; FEMALE; GENE; GENE MUTATION; GERM LINE; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HOYERAAL HREIDARSSON SYNDROME; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; INFANT; JEW; MALE; MOUSE; MUTANT; NONHUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; RTEL1 GENE; SCHOOL CHILD; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; TELOMERE SHORTENING;

ADULT; DNA HELICASES; DYSKERATOSIS CONGENITA; FEMALE; FETAL GROWTH RETARDATION; GENES, RECESSIVE; GERM-LINE MUTATION; HOMOZYGOTE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INTELLECTUAL DISABILITY; JEWS; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; TELOMERASE; TELOMERE;

EID: 84884656362     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1003695     Document Type: Article

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