Human ABC7 transporter: Gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation

Blood

Volumn 96, Issue 9, 2000, Pages 3256-3264

  Bekri, S ^a   Kispal, G ^a   Lange, H ^a   Fitzsimons, E ^a   Tolmie, J ^a   Lill, R ^a   Bishop, D F ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC7 TRANSPORTER; COMPLEMENTARY DNA; GLUTAMIC ACID; IRON; IRON SULFUR PROTEIN; LYSINE; MUTANT PROTEIN; NUCLEOTIDE; SULFUR; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; EXON; GENE MUTATION; GENE STRUCTURE; HUMAN; HUMAN TISSUE; INTRON; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN PROCESSING; SIDEROBLASTIC ANEMIA; X CHROMOSOME LINKED DISORDER; YEAST;

EID: 0034329310     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v96.9.3256.h8003256_3256_3264     Document Type: Article

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