The first reported case of Menkes disease caused by an Alu insertion mutation

Brain and Development

Volumn 29, Issue 2, 2007, Pages 105-108

  Gu, YanHong ^a,b   Kodama, Hiroko ^b   Watanabe, Shigero ^c   Kikuchi, Nobuyuki ^c   Ishitsuka, Ineo ^b   Ozawa, Hiroshi ^d   Fujisawa, Chie ^b   Shiga, Katsuaki ^b  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c YOKOHAMA CITY UNIVERSITY MEDICAL CENTER   (Japan)

^d Shimada Ryoiku Center   (Japan)

Author keywords

Alu elements; ATP7A; Copper metabolism; Exonic splicing enhancer; Menkes disease

Indexed keywords

COMPLEMENTARY DNA; COPPER;

ARTICLE; CASE REPORT; ELECTROENCEPHALOGRAM; EXON; GENE FUNCTION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HUMAN; INFANT; LABORATORY TEST; MALE; MENKES SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PROTEIN DOMAIN; RNA SPLICING;

ADENOSINE TRIPHOSPHATASES; ALU ELEMENTS; CATION TRANSPORT PROTEINS; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; INFANT; MALE; MENKES KINKY HAIR SYNDROME; MUTATION;

EID: 33846503918     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2006.05.012     Document Type: Article

References (7)

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