Recurrent A353V mutation in a Thai family with X-linked dyskeratosis congenita [1]

Haematologica

Volumn 86, Issue 8, 2001, Pages 871-872

  Viprakasit, V ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

5 methyl cytosine deamination; X linked dyskeratosis congenita

Indexed keywords

BONE MARROW EXAMINATION; CASE REPORT; CHROMOSOME DAMAGE; CLINICAL FEATURE; DNA DETERMINATION; DYSKERATOSIS CONGENITA; ETHNOLOGY; EXON; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; LETTER; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; RECURRENT DISEASE; RESTRICTION MAPPING; THAILAND; X CHROMOSOME RECESSIVE INHERITANCE;

ADULT; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DYSKERATOSIS CONGENITA; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; NUCLEAR FAMILY; NUCLEAR PROTEINS; THAILAND;

EID: 0034843340     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (10)

1. Dyskeratosis congenita in all its forms
2. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
3. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene
4. Dyskeratosis congenita: New clinical and molecular insights into ribosome function
5. A teiomerase component is defective in the human disease dyskeratosis congenita
6. Dyskeratosis congenita, telomeres and human ageing
7. Identification of novel DKC1 mutations in patients with dyskeratosis congenita: Implications for pathophysiology and diagnosis
8. Bone marrow failure in dyskeratosis congenita
9. Dyskeratosis congenita in an ethnic Chinese girl
10. An unexpectedly high excision capacity for mispaired 5-hydroxymethyluracil in human cell extracts