Sideroblastic anemia: Molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations

Human Mutation

Volumn 32, Issue 6, 2011, Pages 590-597

  Ducamp, Sarah ^a,b   Kannengiesser, Caroline ^a,c   Touati, Mohamed ^d   Garçon, Loïc ^e   Guerci Bresler, Agnès ^f   Guichard, Jean François ^g   Vermylen, Christiane ^h   Dochir, Joaquim ^h   Poirel, Hélène A ^h   Fouyssac, Fanny ^f   Mansuy, Ludovic ^f   Leroux, Geneviève ⁱ   Tertian, Gérard ^j   Girot, Robert ^k   Heimpel, Hermann ^l   Matthes, Thomas ^m   Talbi, Neila ^a,b   Deybach, Jean Charles ^b   Beaumont, Carole ^a   Puy, Hervé ^a,b   Grandchamp, Bernard ^a,c   more..

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

^b HÔPITAL LOUIS MOURIER   (France)

^c BICHAT HOSPITAL   (France)

^d DUPUYTREN UNIVERSITY HOSPITAL   (France)

^e HÔPITAL SAINT ANTOINE   (France)

^f CHU NANCY BRABOIS   (France)

^g Hopital Sainte Blandine   (France)

^h CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

ⁱ AVICENNE HOSPITAL   (France)

^j BICÊTRE HOSPITAL   (France)

^k HÔPITAL TENON   (France)

^l UNIVERSITY HOSPITAL ULM   (Germany)

^m HUG   (Switzerland)

more..

Author keywords

ALAS2; Heme synthesis; Protoporphyrin; X linked sideroblastic anemia

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; PYRIDOXAL 5 PHOSPHATE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ESCHERICHIA COLI; FEMALE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; HEAT SENSITIVITY; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RHODOBACTER CAPSULATUS; SIDEROBLASTIC ANEMIA; X CHROMOSOME;

5-AMINOLEVULINATE SYNTHETASE; ADULT; AMINO ACID SUBSTITUTION; ANEMIA, SIDEROBLASTIC; CHILD; FEMALE; GENE EXPRESSION; HEME; HUMANS; INFANT; IRON; MALE; MIDDLE AGED; MUTATION, MISSENSE; PROTEIN CONFORMATION; PROTOPORPHYRINS; X CHROMOSOME INACTIVATION;

ESCHERICHIA COLI;

EID: 79957622993     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21455     Document Type: Article

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