Aicardi-goutières syndrome is caused by IFIH1 mutations

American Journal of Human Genetics

Volumn 95, Issue 1, 2014, Pages 121-125

  Oda, Hirotsugu ^a,b   Nakagawa, Kenji ^a   Abe, Junya ^a,c   Awaya, Tomonari ^a   Funabiki, Masahide ^d   Hijikata, Atsushi ^e   Nishikomori, Ryuta ^a   Funatsuka, Makoto ^f   Ohshima, Yusei ^g   Sugawara, Yuji ^h   Yasumi, Takahiro ^a   Kato, Hiroki ^d,i   Shirai, Tsuyoshi ^e   Ohara, Osamu ^b,j   Fujita, Takashi ^d   Heike, Toshio ^a  

^a KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b RIKEN Center for Integrative Medical Sciences   (Japan)

^c Kitano Hospital   (Japan)

^d KYOTO UNIVERSITY   (Japan)

^e NAGAHAMA INSTITUTE OF BIO SCIENCE AND TECHNOLOGY   (Japan)

^f TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^g UNIVERSITY OF FUKUI   (Japan)

^h TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

ⁱ JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^j KAZUSA DNA RESEARCH INSTITUTE   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERFERON; EXONUCLEASE; GENOMIC DNA; PATTERN RECOGNITION RECEPTOR; HELICASE; INTERFERON; INTERFERON INDUCED HELICASE 1; UNCLASSIFIED DRUG; DEAD BOX PROTEIN; IFIH1 PROTEIN, HUMAN;

ADAR1 GENE; AICARDI GOUTIERES SYNDROME; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN ATROPHY; CEREBROSPINAL FLUID ANALYSIS; FAHR DISEASE; GENE; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENETIC CODE; HETEROZYGOTE; HUMAN; IFIH1 GENE; IN VITRO STUDY; INTERFERON PRODUCTION; JAPAN; LYMPHOCYTOSIS; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NEUROIMAGING; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RARE DISEASE; RNASEH2A GENE; RNASEH2B GENE; RNASEH2C GENE; SAMHD1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; STATIC ELECTRICITY; SYSTEMIC LUPUS ERYTHEMATOSUS; TREX1 GENE; UPREGULATION; WHITE MATTER INJURY; ANIMAL EXPERIMENT; ANIMAL MODEL; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CONTROLLED STUDY; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN CELL; MOUSE; MOUSE MODEL; AMINO ACID SEQUENCE; ANIMAL; CHEMISTRY; FEMALE; GENETICS; MALE; MOLECULAR GENETICS; NERVOUS SYSTEM MALFORMATION; NEUROLOGIC DISEASE; PEDIGREE; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; ANIMALS; AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; DEAD-BOX RNA HELICASES; FEMALE; HUMANS; JAPAN; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVOUS SYSTEM MALFORMATIONS; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84904004005     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.06.007     Document Type: Article

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