Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Nature Genetics

Volumn 43, Issue 4, 2011, Pages 356-360

  Bicknell, Louise S ^a   Bongers, Ernie M H F ^b   Leitch, Andrea ^a   Brown, Stephen ^a   Schoots, Jeroen ^b   Harley, Margaret E ^a   Aftimos, Salim ^c   Al Aama, Jumana Y ^d   Bober, Michael ^e   Brown, Paul A J ^f   Van Bokhoven, Hans ^g   Dean, John ^h   Edrees, Alaa Y ^d   Feingold, Murray ⁱ   Fryer, Alan ^j   Hoefsloot, Lies H ^b   Kau, Nikolaus ^k   Knoers, Nine V A M ^l   MacKenzie, James ^f   Opitz, John M ^m   Sarda, Pierre ⁿ   Ross, Alison ^h   Temple, I Karen ^o   Toutain, Annick ^p   Wise, Carol A ^q   Wright, Michael ^r   Jackson, Andrew P ^a   more..

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c AUCKLAND CITY HOSPITAL   (New Zealand)

^d KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^e NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^f ABERDEEN ROYAL INFIRMARY   (United Kingdom)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h National Birth Defects Center ^*  (United Kingdom)

ⁱ National Birth Defects Center   (United States)

^j ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^k ABERDEEN MATERNITY HOSPITAL   (United Kingdom)

^l UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^m UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

ⁿ HÔPITAL ARNAUD DE VILLENEUVE   (France)

^o UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^p CHU BRETONNEAU   (France)

^q TEXAS SCOTTISH RITE HOSPITAL FOR CHILDREN   (United States)

^r NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CELL CYCLE PROTEIN 6; ORIGIN RECOGNITION COMPLEX; REPLICATION LICENSING FACTOR CDT1;

ARTICLE; BASAL CELL NEVUS SYNDROME; CONTROLLED STUDY; GENE LOCUS; GENE MUTATION; GENE REPLICATION; GENETIC HETEROGENEITY; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BASE SEQUENCE; CELL CYCLE PROTEINS; DNA PRIMERS; EAR; FEMALE; FRAMESHIFT MUTATION; GROWTH DISORDERS; HAPLOTYPES; HUMANS; MALE; MICROGNATHISM; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; NUCLEAR PROTEINS; ORIGIN RECOGNITION COMPLEX; PATELLA; PEDIGREE; PHENOTYPE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 79953198187     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.775     Document Type: Article

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