A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

Nature Genetics

Volumn 47, Issue 7, 2015, Pages 814-817

  Alakbarzade, Vafa ^a,b   Hameed, Abdul ^c   Quek, Debra Q Y ^d   Chioza, Barry A ^a   Baple, Emma L ^a,e,f   Cazenave Gassiot, Amaury ^g   Nguyen, Long N ^d   Wenk, Markus R ^g   Ahmad, Arshia Q ^h,i   Sreekantan Nair, Ajith ^a   Weedon, Michael N ^a   Rich, Phil ^j   Patton, Michael A ^a,k   Warner, Thomas T ^b   Silver, David L ^d   Crosby, Andrew H ^a  

^a UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c INSTITUTE OF BIOMEDICAL AND GENETIC ENGINEERING IBGE   (Pakistan)

^d DUKE NUS MEDICAL SCHOOL   (Singapore)

^e UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^f PRINCESS ANNE HOSPITAL   (United Kingdom)

^g NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^h INDIANA UNIVERSITY   (United States)

ⁱ Rehabilitation Hospital of Indiana   (United States)

^j ST GEORGE S HOSPITAL   (United Kingdom)

^k ST GEORGE'S UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; OMEGA 3 FATTY ACID; SODIUM DEPENDENT LYSOPHOSPHATIDYLCHOLINE TRANSPORTER; UNCLASSIFIED DRUG; LYSOPHOSPHATIDYLCHOLINE; MFSD2A PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

ARTICLE; BLOOD BRAIN BARRIER; BLOOD LEVEL; BRAIN DEVELOPMENT; CELL SURFACE; ENDOTHELIUM; GENE MUTATION; INTELLECTUAL IMPAIRMENT; MICROCEPHALY; PRIORITY JOURNAL; SPASTICITY; SPEECH; ADOLESCENT; ANIMAL; BLOOD; CASE CONTROL STUDY; CHILD; DNA SEQUENCE; FEMALE; GENETIC ASSOCIATION; GENETICS; HEK293 CELL LINE; HUMAN; INFANT; MALE; METABOLISM; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; SYNDROME; TRANSPORT AT THE CELLULAR LEVEL;

ADOLESCENT; ANIMALS; BASE SEQUENCE; BIOLOGICAL TRANSPORT; BLOOD-BRAIN BARRIER; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FATTY ACIDS, OMEGA-3; FEMALE; GENETIC ASSOCIATION STUDIES; HEK293 CELLS; HUMANS; INFANT; LYSOPHOSPHATIDYLCHOLINES; MALE; MICROCEPHALY; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ANALYSIS, DNA; SYNDROME; TUMOR SUPPRESSOR PROTEINS;

EID: 84933064751     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3313     Document Type: Article

References (12)

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