Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

Human Genetics

Volumn 121, Issue 3-4, 2007, Pages 389-400

  Kozlowski, Piotr ^a   Roberts, Penelope ^a   Dabora, Sandra ^a   Franz, David ^b   Bissler, John ^b   Northrup, Hope ^c   Au, Kit Sing ^c   Lazarus, Ross ^a   Domanska Pakiela, Dorota ^d   Kotulska, Katarzyna ^d   Jozwiak, Sergiusz ^d   Kwiatkowski, David J ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^c UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^d CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

Large deletions; MLPA; Mosaic mutations; PKD1; TSC1; TSC2

Indexed keywords

DNA; POLYCYSTIN 1; PROTEIN TSC1; TUBERIN; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; ACCURACY; ARTICLE; CONTROLLED STUDY; DNA FLANKING REGION; EXON; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; KIDNEY CYST; MAJOR CLINICAL STUDY; MALE; MOLECULAR PROBE; MOSAICISM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TUBEROUS SCLEROSIS;

CHROMOSOME BREAKAGE; GENE DUPLICATION; GENETIC TECHNIQUES; GENOTYPE; HUMANS; MOSAICISM; PHENOTYPE; SEQUENCE DELETION; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 34147099632     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-006-0308-9     Document Type: Article

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