Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

American Journal of Human Genetics

Volumn 99, Issue 1, 2016, Pages 188-194

  Lenk, Guy M ^a   Szymanska, Krystyna ^b,c   Debska Vielhaber, Grazyna ^d   Rydzanicz, Malgorzata ^b   Walczak, Anna ^b   Bekiesinska Figatowska, Monika ^f   Vielhaber, Stefan ^d   Hallmann, Kerstin ^g   Stawinski, Piotr ^b,e   Buehring, Sonja ^h   Hsu, David A ⁱ   Kunz, Wolfram S ^g   Meisler, Miriam H ^a   Ploski, Rafal ^b  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

^c MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^d UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^e Institute of Physiology and Pathology of Hearing   (Poland)

^f INSTITUTE OF MOTHER AND CHILD   (Poland)

^g UNIVERSITY HOSPITAL BONN   (Germany)

^h University of Wisconsin–Madison ^*  (United States)

ⁱ UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; LEUCINE; SERINE; TRYPTOPHAN; MEMBRANE PROTEIN; VAC14 PROTEIN, HUMAN;

ALLELE; ARTICLE; CELL VACUOLE; CHILDHOOD DISEASE; DIMERIZATION; DNA SEQUENCE; DYSTONIA; EXOME; EXON; FIBROBLAST; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; LEIGH DISEASE; MISSENSE MUTATION; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRIORITY JOURNAL; SKIN FIBROBLAST; AMINO ACID SEQUENCE; CASE REPORT; CHEMISTRY; CHILD; FEMALE; GENETICS; INFANT; MALE; MUTATION; PEDIGREE; PRESCHOOL CHILD; RECESSIVE GENE;

AGE OF ONSET; ALLELES; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; EXOME; EXONS; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUTATION; MUTATION, MISSENSE; NERVOUS SYSTEM DISEASES; PEDIGREE;

EID: 84989906570     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.05.008     Document Type: Article

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