Novel Alu retrotransposon insertion leading to Alström syndrome

Human Genetics

Volumn 131, Issue 3, 2012, Pages 407-413

  Taokesen, Mustafa ^a   Collin, Gayle B ^b   Evsikov, Alexei V ^b   Güzel, Ayoegül ^c   Özgül, R Köksal ^c   Marshall, Jan D ^b   Naggert, Jürgen K ^b  

^a DICLE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^b JACKSON LABORATORY   (United States)

^c HACETTEPE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ALMS1 PROTEIN; CELL PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ALLELE; ALSTROM SYNDROME; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 2P; FEMALE; GENE INSERTION; GENE SEQUENCE; GENETIC SCREENING; HEART VENTRICLE HYPERTROPHY; HEPATOSPLENOMEGALY; HETEROZYGOTE; HUMAN; HYPERINSULINEMIA; HYPERLIPIDEMIA; HYPOTHYROIDISM; INSULIN RESISTANCE; KIDNEY FAILURE; MALE; MUTATION RATE; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROPOSON; SEQUENCE ANALYSIS; TURKEY (REPUBLIC); ALU SEQUENCE; CHROMOSOME 13; GENE EXPRESSION REGULATION; GENETICS; PEDIGREE;

ALSTROM SYNDROME; ALU ELEMENTS; CHROMOSOMES, HUMAN, PAIR 13; FEMALE; HUMANS; MALE; MUTAGENESIS, INSERTIONAL; PEDIGREE; RETROELEMENTS;

EID: 84859507544     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-011-1083-9     Document Type: Article

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