Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease

Clinical Genetics

Volumn 79, Issue 2, 2011, Pages 176-182

  Desai, V ^a   Donsante, A ^a   Swoboda, K J ^b   Martensen, M ^b   Thompson, J ^b   Kaler, S G ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

ATP7A; Junction fragment; Menkes disease; Skewing; X inactivation

Indexed keywords

COPPER EXPORTING ADENOSINE TRIPHOSPHATASE; GENOMIC DNA;

ARTICLE; CHROMOSOME BREAKAGE; DISEASE SEVERITY; DNA METHYLATION; EXON; FEMALE; GENE DELETION; GENETIC RISK; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HUMAN GENOME; INFANT; MENKES SYNDROME; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL; RECEPTOR GENE; X CHROMOSOME INACTIVATION;

ADENOSINE TRIPHOSPHATASES; ADULT; CATION TRANSPORT PROTEINS; CHROMOSOMES, HUMAN, X; FEMALE; GENE DELETION; GENETIC TESTING; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MENKES KINKY HAIR SYNDROME; PEDIGREE; X CHROMOSOME INACTIVATION; YOUNG ADULT;

EID: 78650863269     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01451.x     Document Type: Article

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