Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship

Haematologica

Volumn 98, Issue 12, 2013, Pages

  Liu, Gang ^a   Guo, Shanshan ^a   Kang, Huiyuan ^b   Zhang, Fuming ^c   Hu, Yulin ^c   Wang, Lu ^d   Li, Mianyang ^b   Ru, Yongxin ^e   Camaschella, Clara ^f   Han, Bing ^d   Nie, Guangjun ^a  

^a NATIONAL CENTER FOR NANOSCIENCE AND TECHNOLOGY   (China)

^b CHINESE PLA GENERAL HOSPITAL   (China)

^c THE FIRST HOSPITAL OF JILIN UNIVERSITY   (China)

^d PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^e INSTITUTE OF HEMATOLOGY AND BLOOD DISEASES HOSPITAL   (China)

^f SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

Chinese population; Congenital sideroblastic anemia; Genotype; Mutation; Phenotype

Indexed keywords

PYRIDOXINE;

ADOLESCENT; ADULT; ALAS2 GENE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEMOGLOBIN BLOOD LEVEL; HUMAN; IRON CHELATION; LETTER; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; RNA SPLICING; SCHOOL CHILD; SEQUENCE ANALYSIS; SIDEROBLASTIC ANEMIA; YOUNG ADULT;

CHINESE POPULATION; CONGENITAL SIDEROBLASTIC ANEMIA; GENOTYPE; MUTATION; PHENOTYPE;

ADOLESCENT; ADULT; ANEMIA, SIDEROBLASTIC; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; GENOTYPE; HUMANS; MALE; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MUTATION, MISSENSE; PHENOTYPE; YOUNG ADULT;

EID: 84889853996     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2013.095513     Document Type: Letter

References (5)

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