Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation

Blood

Volumn 100, Issue 12, 2002, Pages 4236-4238

  Cazzola, Mario ^a,b,c   May, Alison ^a,b,c   Bergamaschi, Gaetano ^a,b,c   Cerani, Paola ^a,b,c   Ferrillo, Sara ^a,b,c   Bishop, David F ^a,b,c  

^a UNIVERSITY OF PAVIA   (Italy)

^b CARDIFF UNIVERSITY   (United Kingdom)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 AMINOLEVULINATE SYNTHASE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC COUNSELING; HEMIZYGOTE; HETEROZYGOTE; HUMAN; IRON OVERLOAD; MALE; MICROCYTIC ANEMIA; PEDIGREE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; RETICULOCYTE; SIDEROBLASTIC ANEMIA; X CHROMOSOME LINKAGE;

EID: 0036893199     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2002-03-0685     Document Type: Article

References (14)

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