Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene

Blood

Volumn 111, Issue 3, 2008, Pages 1128-1130

  Du, Hong Yan ^a   Pumbo, Elena ^a   Manley, Peter ^b   Field, Joshua J ^a   Bayliss, Susan J ^a   Wilson, David B ^a   Mason, Philip J ^a   Bessler, Monica ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BROWN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TELOMERASE REVERSE TRANSCRIPTASE;

ADULT; ARTICLE; CASE REPORT; DYSKERATOSIS CONGENITA; FAMILY HISTORY; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSFECTION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INHERITANCE; MALE; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

EID: 38949103402     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2007-10-120907     Document Type: Article

References (13)

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