Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with dyskeratosis congenita

Journal of Investigative Dermatology

Volumn 123, Issue 3, 2004, Pages 470-473

  Ding, Ying Guo ^a   Zhu, Tie Shan ^b   Jiang, Wei ^a   Yang, Yong ^a   Bu, Ding Fang ^a   Tu, Ping ^a   Zhu, Xue Jun ^a   Wang, Bao Xi ^b  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

DKC1; Dyskeratosis congenita; Dyskerin; Mutation

Indexed keywords

GENOMIC DNA;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHINESE; CLINICAL ARTICLE; DNA FLANKING REGION; DNA RESTRICTION; DNA SEQUENCE; DYSKERATOSIS CONGENITA; EXON; GENE AMPLIFICATION; GENE MUTATION; GENETIC DISORDER; HUMAN; MALE; MORPHOLOGICAL TRAIT; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 4143074874     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2004.23228.x     Document Type: Article

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