Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family

British Journal of Haematology

Volumn 104, Issue 1, 1999, Pages 127-130

  Koc, Ahmet ^a   Pronk, Jan C ^b   Alikasifoglu, Mehmet ^c   Joenje, Hans ^b   Altay, Çigdem ^a,c  

^a Haematology Unit   (Turkey)

^b VU UNIVERSITY AMSTERDAM   (Netherlands)

^c HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Fanconi's anaemia group A; Genotype; Haematological manifestation; Phenotype

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; EXON; FANCONI ANEMIA; FEMALE; FETUS; GENE DELETION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HOMOZYGOSITY; HUMAN; MALE; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADOLESCENT; CHILD; CONSANGUINITY; DISEASES IN TWINS; FANCONI ANEMIA; FEMALE; HUMANS; INFANT, NEWBORN; MALE; PEDIGREE; TWINS, MONOZYGOTIC;

EID: 0032956991     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1999.01156.x     Document Type: Article

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