Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency

Blood

Volumn 112, Issue 5, 2008, Pages 2089-2091

  Guillem, Flavia ^a   Lawson, Sarah ^b   Kannengiesser, Caroline ^a   Westerman, Mark ^c   Beaumont, Carole ^d   Grandchamp, Bernard ^a,d  

^a BICHAT HOSPITAL   (France)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^c Intrinsic Life Sciences   (United States)

^d CENTRE DE RECHERCHE BIOMÉDICALE BICHAT BEAUJON CRB3   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FERROUS ION; HEPCIDIN; IRON; SERINE PROTEINASE; DNA; MEMBRANE PROTEIN; TMPRSS6 PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CHILD; DRUG TREATMENT FAILURE; GENE; GENE EXPRESSION; GENE MUTATION; GERM LINE; HUMAN; INTESTINE ABSORPTION; IRON DEFICIENCY ANEMIA; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TMPRSS6 GENE; ADOLESCENT; BLOOD; EXON; FEMALE; GENETICS; METABOLISM; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PEDIGREE; STOP CODON;

ADOLESCENT; ANEMIA, IRON-DEFICIENCY; BASE SEQUENCE; CODON, NONSENSE; DNA; EXONS; FEMALE; HUMANS; IRON; MALE; MEMBRANE PROTEINS; MIDDLE AGED; PEDIGREE; SERINE ENDOPEPTIDASES;

EID: 52649096861     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2008-05-154740     Document Type: Article

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