Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP)

Human Molecular Genetics

Volumn 22, Issue 7, 2013, Pages 1280-1288

  Ducamp, Sarah ^a,b   Schneider Yin, Xiaoye ^c   De Rooij, Felix ^d   Clayton, Jerome ^e   Fratz, Erica J ^e   Rudd, Alice ^f   Ostapowicz, George ^g   Varigos, George ^f   Lefebvre, Thibaud ^a,b   Deybach, Jean Charles ^a,b   Gouya, Laurent ^a,b   Wilson, Paul ^d   Ferreira, Gloria C ^e   Minder, Elisabeth I ^c   Puy, Hervé ^a,b  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

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

^c Institut für Labormedizin   (Switzerland)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF SOUTH FLORIDA   (United States)

^f ROYAL MELBOURNE HOSPITAL   (Australia)

^g GOLD COAST UNIVERSITY HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; 5 AMINOLEVULINATE SYNTHASE 2; AMINO ACID; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CATALYSIS; CHILD; CLINICAL ARTICLE; DISEASE ASSOCIATION; ENZYME ACTIVITY; ERYTHROID CELL; ERYTHROPOIETIC PROTOPORPHYRIA; FEMALE; FRAMESHIFT MUTATION; GAIN OF FUNCTION MUTATION; GENE DELETION; GENE LOCATION; HUMAN; HYPOTHESIS; INFANT; MOSAICISM; MUTANT; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; WILD TYPE; X LINKED DOMINANT PROTOPORPHYRIA;

5-AMINOLEVULINATE SYNTHETASE; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FRAMESHIFT MUTATION; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, X-LINKED; HUMANS; INFANT; KINETICS; MOLECULAR SEQUENCE DATA; MOSAICISM; MUTAGENESIS, SITE-DIRECTED; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; PROTOPORPHYRIA, ERYTHROPOIETIC; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84874768189     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds531     Document Type: Article

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