Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation

Journal of Medical Genetics

Volumn 49, Issue 3, 2012, Pages 184-186

  Shamseldin, Hanan E ^a   Elfaki, Mohamed ^b   Alkuraya, Fowzan S ^a,b,c  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

BUTADIENE DIEPOXIDE; DOUBLE STRANDED DNA; PHOSPHOPROTEIN; RAD51 PROTEIN; UNCLASSIFIED DRUG; XRCC2 PROTEIN;

ARTICLE; CASE REPORT; CHILD; DOUBLE STRANDED DNA BREAK; ECTOPIC KIDNEY; EXOME; FACIAL NERVE PARALYSIS; FANCONI ANEMIA; GENE MUTATION; GENE SEQUENCE; HUMAN; KARYOTYPE; MALE; METACARPAL BONE; MICROCEPHALY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCAPHOID BONE;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EXOME; FANCONI ANEMIA; HUMANS; MALE;

MURINAE;

EID: 84859484153     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100585     Document Type: Article

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