An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome

American Journal of Medical Genetics, Part A

Volumn 143, Issue 7, 2007, Pages 721-726

  Udaka, Toru ^a   Okamoto, Nobuhiko ^b   Aramaki, Michihiko ^a   Torii, Chiharu ^a   Kosaki, Rika ^c   Hosokai, Noboru ^d   Hayakawa, Toshiyuki ^e   Takahata, Naoyuki ^f   Takahashi, Takao ^a   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^c National Children Medical Center   (Japan)

^d LSI MEDIENCE CORPORATION   (Japan)

^e OSAKA UNIVERSITY   (Japan)

^f GRADUATE UNIVERSITY FOR ADVANCED STUDIES   (Japan)

Author keywords

CHARGE syndrome; DHPLC; Quantitative PCR; Rearrangement

Indexed keywords

PRIMER DNA;

ADOLESCENT; ALU SEQUENCE; ARTICLE; CASE REPORT; CHD7 GENE; CMP NEU5AC HYDROXYLASE GENE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIAGNOSTIC PROCEDURE; EXON; FEMALE; FLUORESCENCE ANALYSIS; GENE; GENE AMPLIFICATION; GENE DELETION; GENE INACTIVATION; GENE INSERTION; GENE NUMBER; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; INFANT; ION PAIR CHROMATOGRAPHY; LIQUID CHROMATOGRAPHY; MULTIPLEX POLYMERASE CHAIN REACTION; POINT MUTATION; PRIORITY JOURNAL; PROCESS DEVELOPMENT; QUANTITATIVE ANALYSIS; RETROPOSON; REVERSED PHASE HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; SYNDROME CHARGE;

ADOLESCENT; ALU ELEMENTS; BASE SEQUENCE; CHILD, PRESCHOOL; CHOANAL ATRESIA; COLOBOMA; DNA HELICASES; DNA-BINDING PROTEINS; EAR; FEMALE; GENITALIA, FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; MENTAL RETARDATION; RETROELEMENTS; SEQUENCE DELETION; SYNDROME;

PRIMATES;

EID: 34247215966     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31441     Document Type: Article

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