Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome

Journal of Medical Genetics

Volumn 44, Issue 8, 2007, Pages 492-497

  Donsante, Anthony ^a   Tang, Jingrong ^a   Godwin, Sarah C ^a   Holmes, Courtney S ^b   Goldstein, David S ^b   Bassuk, Alexander ^c   Kaler, Stephen G ^a,c  

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

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3,4 DIHYDROXYPHENYLETHYLENE GLYCOL; BIOCHEMICAL MARKER; DOPA; DOPAMINE BETA MONOOXYGENASE; MENKES PROTEIN; RIBONUCLEASE;

ADOLESCENT; ADULT; ANAMNESIS; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; COPPER BLOOD LEVEL; DNA SPLICING; EXON; FEMALE; GASTROINTESTINAL ABSORPTION; GENE EXPRESSION; GENE FUNCTION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; MALE; MENKES SYNDROME; MISSENSE MUTATION; MOSAICISM; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL HORN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WESTERN BLOTTING;

ADENOSINE TRIPHOSPHATASES; CATION TRANSPORT PROTEINS; CELL LINE; CEREBELLUM; CHILD, PRESCHOOL; COPPER; DNA MUTATIONAL ANALYSIS; FAMILY; GENE EXPRESSION REGULATION; GENETIC COMPLEMENTATION TEST; HUMANS; INFANT; MALE; MENKES KINKY HAIR SYNDROME; OCCIPITAL LOBE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SIBLINGS; TRANSCRIPTION, GENETIC; VARIATION (GENETICS);

EID: 34548279406     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.050013     Document Type: Article

References (16)

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