Splice site, frameshift, and chimeric GFAP mutations in Alexander disease

Human Mutation

Volumn 33, Issue 7, 2012, Pages 1141-1148

  Flint, Daniel ^a   Li, Rong ^a   Webster, Lital S ^a   Naidu, Sakkubai ^b   Kolodny, Edwin ^c   Percy, Alan ^d   van der Knaap, Marjo ^e   Powers, James M ^f   Mantovani, John F ^g,h   Ekstein, Josef ⁱ   Goldman, James E ^j   Messing, Albee ^k   Brenner, Michael ^a  

^a University of Alabama at Birmingham   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^e VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^f STRONG MEMORIAL HOSPITAL   (United States)

^g MERCY HOSPITAL   (United States)

^h WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ Dor Yeshorim   (United States)

^j Och Spine at New York Presbyterian Hospitals   (United States)

^k UNIVERSITY OF WISCONSIN MADISON   (United States)

more..

Author keywords

Aggregate; Alexander disease; Astrocyte; Chimera; GFAP; Leukodystrophy

Indexed keywords

CARBAMAZEPINE; DNA; GLIAL FIBRILLARY ACIDIC PROTEIN; MYELIN; VALPROIC ACID;

3' UNTRANSLATED REGION; ADULT; AIRWAY OBSTRUCTION; ALEXANDER DISEASE; ALTERNATIVE RNA SPLICING; ARTICLE; BRAIN ATROPHY; BRAIN THIRD VENTRICLE; BRAIN VENTRICLE DILATATION; CASE REPORT; CAUDATE NUCLEUS; CEREBROSPINAL FLUID EXAMINATION; CHIMERA; COGNITIVE DEFECT; COMPUTER ASSISTED TOMOGRAPHY; CYTOLOGY; DENTATE NUCLEUS; DISEASE COURSE; DISEASE DURATION; DNA SEQUENCE; DYSARTHRIA; DYSPHAGIA; ELECTROENCEPHALOGRAM; EVOKED SOMATOSENSORY RESPONSE; EVOKED VISUAL RESPONSE; EXON; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; FRONTAL LOBE; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENETIC CODE; GENETIC SCREENING; GENETIC TRANSCRIPTION; GLOBUS PALLIDUS; HEAD CIRCUMFERENCE; HETEROZYGOSITY; HUMAN; INFANT; INTRON; MACROCEPHALY; MALE; MEDULLA OBLONGATA; MOTOR CONTROL; MUSCLE TONE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; NYSTAGMUS; POLYMERIZATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PUTAMEN; STRABISMUS; TONIC CLONIC SEIZURE; WHITE MATTER;

ADULT; ALEXANDER DISEASE; ASTROCYTES; FEMALE; FRAMESHIFT MUTATION; GLIAL FIBRILLARY ACIDIC PROTEIN; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; RNA SPLICING;

EID: 84861873720     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22094     Document Type: Article

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