Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

European Journal of Human Genetics

Volumn 19, Issue 1, 2011, Pages 56-63

  Betsalel, Ofir T ^a   Rosenberg, Efraim H ^a,b   Almeida, Ligia S ^a,c   Kleefstra, Tjitske ^d   Schwartz, Charles E ^e   Valayannopoulos, Vassili ^f   Abdul Rahman, Omar ^g   Poplawski, Nicola ^h   Vilarinho, Laura ^c   Wolf, Philipp ⁱ   Den Dunnen, Johan T ^j   Jakobs, Cornelis ^a   Salomons, Gajja S ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NETHERLANDS CANCER INSTITUTE   (Netherlands)

^c NATIONAL INSTITUTE OF HEALTH   (Portugal)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e GREENWOOD GENETIC CENTER   (United States)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^h WOMEN S AND CHILDREN S HOSPITAL   (Australia)

ⁱ DRK Children's Hospital   (Germany)

^j LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE; CREATININE; DNA; MEMBRANE PROTEIN; PROTEIN SLC6A8; UNCLASSIFIED DRUG;

ARTICLE; CANONICAL ANALYSIS; CLINICAL ASSESSMENT TOOL; CONTROLLED STUDY; CREATININE URINE LEVEL; DATA BASE; ERROR; FEMALE; GENE DELETION; GENETIC DATABASE; GENETIC TRANSFECTION; GENETIC VARIABILITY; HEALTH CARE PLANNING; HUMAN; HUMAN CELL; LABORATORY; MAJOR CLINICAL STUDY; MUTATION; PREDICTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN VARIANT; PUBLISHING; RNA SPLICING; WEB BROWSER;

EID: 85027949839     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.134     Document Type: Article

References (21)

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