Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

American Journal of Human Genetics

Volumn 97, Issue 1, 2015, Pages 163-169

  Haack, Tobias B ^a,b   Staufner, Christian ^c   Köpke, Marlies G ^a,b   Straub, Beate K ^c   Kölker, Stefan ^c   Thiel, Christian ^c   Freisinger, Peter ^d   Baric, Ivo ^e   McKiernan, Patrick J ^f   Dikow, Nicola ^c   Harting, Inga ^c   Beisse, Flemming ^c   Burgard, Peter ^c   Kotzaeridou, Urania ^c   Kühr, Joachim ^g   Himbert, Urban ^h   Taylor, Robert W ⁱ   Distelmaier, Felix ^j   Vockley, Jerry ^k   Ghaloul Gonzalez, Lina ^k   Zschocke, Johannes ^l   Kremer, Laura S ^b   Graf, Elisabeth ^b   Schwarzmayr, Thomas ^b   Bader, Daniel M ^m   Gagneur, Julien ^m   Wieland, Thomas ^b   Terrile, Caterina ^b   Strom, Tim M ^a,b   Meitinger, Thomas ^a,b   Hoffmann, Georg F ^c   Prokisch, Holger ^a,b   more..

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^d General Hospital Reutlingen   (Germany)

^e KBC Zagreb   (Croatia)

^f BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^g Children's Hospital Karlsruhe   (Germany)

^h St Elisabeth Hospital   (Germany)

ⁱ NEWCASTLE UNIVERSITY   (United Kingdom)

^j UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^k CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^l INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^m UNIVERSITY OF MUNICH   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

NEUROBLASTOMA AMPLIFIED SEQUENCE PROTEIN; PROTEIN; PROTEIN P31; UNCLASSIFIED DRUG; NBAS PROTEIN, HUMAN; TUMOR PROTEIN;

ACUTE LIVER FAILURE; ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; EXOME SEQUENCING; FAMILY; FEMALE; FEVER; FIBROBLAST; FRAMESHIFT MUTATION; GENE EXPRESSION PROFILING; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GOLGI MEMBRANE; HUMAN; IMMUNOBLOTTING; INFANCY; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MUTANT; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT ACUTE LIVER FAILURE; SANGER SEQUENCING; SEQUENCE ANALYSIS; SPLICE SITE MUTATION; DNA SEQUENCE; EXOME; GENETICS; GERMANY; INFANT; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; RECURRENT DISEASE; TRANSPORT AT THE CELLULAR LEVEL;

BASE SEQUENCE; BIOLOGICAL TRANSPORT; EXOME; FIBROBLASTS; GENE FREQUENCY; GERMANY; HUMANS; IMMUNOBLOTTING; INFANT; LIVER FAILURE, ACUTE; MOLECULAR SEQUENCE DATA; NEOPLASM PROTEINS; PEDIGREE; RECURRENCE; SEQUENCE ANALYSIS, DNA;

EID: 84937522236     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.05.009     Document Type: Article

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