Whole-exome sequencing identifies mutated C12orf57 in recessive corpus callosum hypoplasia

American Journal of Human Genetics

Volumn 92, Issue 3, 2013, Pages 392-400

  Akizu, Naiara ^a   Shembesh, Nuri M ^b   Ben Omran, Tawfeg ^c   Bastaki, Laila ^d   Al Tawari, Asma ^e   Zaki, Maha S ^f   Koul, Roshan ^g   Spencer, Emily ^a   Rosti, Rasim Ozgur ^a   Scott, Eric ^a   Nickerson, Elizabeth ^h   Gabriel, Stacey ^h   Da Gente, Gilberto ⁱ   Li, Jiang ⁱ   Deardorff, Matthew A ^j,k   Conlin, Laura K ^j   Horton, Margaret A ^j   Zackai, Elaine H ^j,k   Sherr, Elliott H ⁱ   Gleeson, Joseph G ^a  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b AL ARAB MEDICAL UNIVERSITY   (Libyan Arab Jamahiriya)

^c HAMAD MEDICAL CORPORATION   (Qatar)

^d Kuwait Maternity Hospital   (Kuwait)

^e AL SABAH HOSPITAL   (Kuwait)

^f NATIONAL RESEARCH CENTRE   (Egypt)

^g SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

^h BROAD INSTITUTE OF MIT AND HARVARD   (United States)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^k UNIVERSITY OF PENNSYLVANIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; METHIONINE;

ARTICLE; CLINICAL ARTICLE; CODON; CORPUS CALLOSUM AGENESIS; EXOME; FAMILY; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; HUMAN; PRIORITY JOURNAL; PROTEIN FUNCTION; WHOLE EXOME SEQUENCING;

AGENESIS OF CORPUS CALLOSUM; AMINO ACID SEQUENCE; CEREBRAL CORTEX; CODON; CORPUS CALLOSUM; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; METHIONINE; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 84876415057     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.02.004     Document Type: Article

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