Identification of a novel large intragenic deletion in a family with Fanconi anemia: First molecular report from India and review of literature

Gene

Volumn 518, Issue 2, 2013, Pages 470-475

  Shukla, Pallavi ^a   Rao, Anita ^a   Ghosh, Kanjaksha ^a   Vundinti, Babu Rao ^a  

^a NATIONAL INSTITUTE OF IMMUNOHAEMATOLOGY   (India)

Author keywords

FANCA; Fanconi anemia; Intragenic deletion; MLPA

Indexed keywords

FANCONI ANEMIA GROUP D2 PROTEIN;

ARM MALFORMATION; ARTICLE; CASE REPORT; CHILD; CHROMOSOME BREAKAGE; CONTROLLED STUDY; FANCONI ANEMIA; FEVER; GENE DELETION; GENE IDENTIFICATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERPIGMENTATION; INDIA; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PALLOR; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; UBIQUITINATION; WESTERN BLOTTING;

BASE SEQUENCE; CELL LINE; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP A PROTEIN; FANCONI ANEMIA COMPLEMENTATION GROUP D2 PROTEIN; GENETIC TESTING; HUMANS; INDIA; MALE; SEQUENCE DELETION;

EID: 84875380700     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.01.016     Document Type: Article

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