A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings

Journal of Human Genetics

Volumn 60, Issue 7, 2015, Pages 363-369

  Li, Zejuan ^a   Schonberg, Rhonda ^b,c   Guidugli, Lucia ^a   Johnson, Amy Knight ^a   Arnovitz, Stephen ^a   Yang, Sandra ^b   Scafidi, Joseph ^b,c   Summar, Marshall L ^b,c   Vezina, Gilbert ^b,c   Das, Soma ^a   Chapman, Kimberly ^b,c   Del Gaudio, Daniela ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^c GEORGE WASHINGTON UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE TRANSFER RNA LIGASE; MESSENGER RNA; RARS2 PROTEIN, HUMAN;

5' UNTRANSLATED REGION; ARTICLE; CEREBELLUM AGENESIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EMBRYO; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; MITOCHONDRIAL GENE; NEUROIMAGING; PONTOCEREBELLAR HYPOPLASIA; PROMOTER REGION; SIBLING; CASE REPORT; CEREBELLAR DISEASES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDY; GENETICS; INFANT; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRESCHOOL CHILD;

ARGININE-TRNA LIGASE; BASE SEQUENCE; CEREBELLAR DISEASES; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POINT MUTATION; PROMOTER REGIONS, GENETIC;

EID: 84938056478     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.31     Document Type: Article

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