Erratum: Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly (American Journal of Human Genetics (2016) 99(1) (228–235)(S0002929716301586)(10.1016/j.ajhg.2016.05.023));Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

American Journal of Human Genetics

Volumn 99, Issue 1, 2016, Pages 228-235

  Breuss, Martin W ^a,b   Sultan, Tipu ^c   James, Kiely N ^a,b   Rosti, Rasim O ^a,b   Scott, Eric ^a,b   Musaev, Damir ^a,b   Furia, Bansri ^d   Reis, André ^e   Sticht, Heinrich ^e   Al Owain, Mohammed ^f,g   Alkuraya, Fowzan S ^f,g,h   Reuter, Miriam S ^e   Abou Jamra, Rami ^e,i   Trotta, Christopher R ^d   Gleeson, Joseph G ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b RADY CHILDREN S INSTITUTE FOR GENOMIC MEDICINE   (United States)

^c CHILDREN S HOSPITAL   (Pakistan)

^d PTC THERAPEUTICS   (United States)

^e UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^f ALFAISAL UNIVERSITY   (Saudi Arabia)

^g KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^h KING ABDULAZIZ CITY FOR SCIENCE AND TECHNOLOGY   (Saudi Arabia)

ⁱ UNIVERSITY OF LEIPZIG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ENDONUCLEASE; TRANSFER RNA; TSEN15 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CEREBELLUM HYPOPLASIA; EPILEPSY; GENE MUTATION; HOMOZYGOTE; HUMAN; IN VITRO STUDY; MICROCEPHALY; PONS ANGLE; PRIORITY JOURNAL; PROTEIN SUBUNIT; RNA CLEAVAGE; RNA SPLICING; STOICHIOMETRY; VISUAL DISORDER; AMINO ACID SEQUENCE; CASE REPORT; CEREBELLUM DISEASE; CHEMISTRY; CHILD; FEMALE; GENETICS; INFANT; MALE; MOLECULAR MODEL; MUTATION; NEWBORN; PEDIGREE; PRESCHOOL CHILD; RECESSIVE GENE;

AMINO ACID SEQUENCE; CEREBELLAR DISEASES; CHILD; CHILD, PRESCHOOL; ENDONUCLEASES; FEMALE; GENES, RECESSIVE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MICROCEPHALY; MODELS, MOLECULAR; MUTATION; PEDIGREE;

EID: 84989844677     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.08.009     Document Type: Erratum

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