Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis

PLoS Genetics

Volumn 7, Issue 3, 2011, Pages

  Alder, Jonathan K ^a   Cogan, Joy D ^b   Brown, Andrew F ^c   Anderson, Collin J ^a   Lawson, William E ^b   Lansdorp, Peter M ^d   Phillips, John A ^b   Loyd, James E ^b   Chen, Julian J L ^c,e   Armanios, Mary ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VANDERBILT UNIVERSITY   (United States)

^c ARIZONA STATE UNIVERSITY   (United States)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^e ARIZONA STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ISOLEUCINE; METHIONINE; TELOMERASE; TELOMERASE REVERSE TRANSCRIPTASE; VALINE;

ADULT; AGED; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHROMOSOME ABERRATION; CHROMOSOME SIZE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVE SITE; FAMILIAL DISEASE; FEMALE; GENEALOGY; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; IN VITRO STUDY; INFANT; LOSS OF FUNCTION MUTATION; LUNG FIBROSIS; MALE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; SCHOOL CHILD; SHORT TANDEM REPEAT; TELOMERE; GENETICS; HAPLOINSUFFICIENCY; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; PEDIGREE;

ADULT; AGED; CATALYTIC DOMAIN; FEMALE; HAPLOINSUFFICIENCY; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PULMONARY FIBROSIS; TELOMERASE; TELOMERE;

EID: 79953746909     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1001352     Document Type: Article

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