Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Salsano, Ettore ^a   Tabano, Silvia ^b,c   Sirchia, Silvia M ^b,c   Colapietro, Patrizia ^b,c   Castellotti, Barbara ^a   Gellera, Cinzia ^a   Rimoldi, Marco ^a   Pensato, Viviana ^a   Mariotti, Caterina ^a   Pareyson, Davide ^a   Miozzo, Monica ^b,c   Uziel, Graziella ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

ABCD1; Allele specific expression.; X Chromosome inactivation; X linked Adrenoleukodystrophy

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER D1; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID; ABCD1 PROTEIN, HUMAN;

ADRENOLEUKODYSTROPHY; ADULT; AGED; ALLELE; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FATTY ACID BLOOD LEVEL; FEMALE; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; MUTANT; PERIPHERAL BLOOD MONONUCLEAR CELL; PYROSEQUENCING; RESTRICTION MAPPING; X CHROMOSOME INACTIVATION; GENE EXPRESSION REGULATION; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; PHYSIOLOGY; X CHROMOSOME;

ADRENOLEUKODYSTROPHY; ADULT; AGED; ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; CHROMOSOMES, HUMAN, X; FEMALE; GENE EXPRESSION REGULATION; HUMANS; MIDDLE AGED; MUTATION; YOUNG ADULT;

EID: 84856091180     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-10     Document Type: Article

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