Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Nature Genetics

Volumn 46, Issue 1, 2014, Pages 70-76

  Sousa, Sérgio B ^a,b   Jenkins, Dagan ^a   Chanudet, Estelle ^a   Tasseva, Guergana ^c   Ishida, Miho ^a   Anderson, Glenn ^d   Docker, James ^a   Ryten, Mina ^e,f   Sa, Joaquim ^b   Saraiva, Jorge M ^b,g   Barnicoat, Angela ^d   Scott, Richard ^d   Calder, Alistair ^d   Wattanasirichaigoon, Duangrurdee ^h   Chrzanowska, Krystyna ⁱ   Simandlová, Martina ^j   Van Maldergem, Lionel ^k   Stanier, Philip ^a   Beales, Philip L ^a   Vance, Jean E ^c   Moore, Gudrun E ^a   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^c UNIVERSITY OF ALBERTA   (Canada)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g UNIVERSITY OF COIMBRA   (Portugal)

^h MAHIDOL UNIVERSITY   (Thailand)

ⁱ CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^j UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^k UNIVERSITÉ DE FRANCHE COMTÉ   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLSERINE; PHOSPHATIDYLSERINE SYNTHASE; PHOSPHATIDYLSERINE SYNTHASE 1; UNCLASSIFIED DRUG;

ARTICLE; BONE METABOLISM; CONGENITAL MALFORMATION; EXOME; FIBROBLAST; GAIN OF FUNCTION MUTATION; GENE; INTELLECTUAL IMPAIRMENT; LENZ MAJEWSKI SYNDROME; METABOLISM; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SYNTHESIS;

EID: 84891373792     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2829     Document Type: Article

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