Regional genomic instability predisposes to complex dystrophin gene rearrangements

Human Genetics

Volumn 126, Issue 3, 2009, Pages 411-423

  Oshima, Junko ^a,d   Magner, Daniel B ^a   Lee, Jennifer A ^a   Breman, Amy M ^a   Schmitt, Eric S ^a   White, Lisa D ^a   Crowe, Carol A ^b   Merrill, Michelle ^b   Jayakar, Parul ^c   Rajadhyaksha, Aparna ^c   Eng, Christine M ^a   del Gaudio, Daniela ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b METROHEALTH MEDICAL CENTER   (United States)

^c MIAMI CHILDREN'S HOSPITAL   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN ASSOCIATED PROTEIN COMPLEX; GENE PRODUCT; PROTEIN ARX; PROTEIN CYBB; PROTEIN DYNLT3; PROTEIN LANCL3; PROTEIN NROB1; PROTEIN POLA1; PROTEIN XK; UNCLASSIFIED DRUG;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CASE REPORT; CHILD; CHROMOSOME INVERSION; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MICROARRAY; DNA STRAND BREAKAGE; DUCHENNE MUSCULAR DYSTROPHY; EXON; FEMALE; FETUS; GENE DELETION; GENE DUPLICATION; GENE LOCUS; GENE REARRANGEMENT; GENETIC PREDISPOSITION; GENOMIC INSTABILITY; HUMAN; INCIDENCE; INFANT; INTRON; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS; SOUTHERN BLOTTING; STRUCTURAL BIOINFORMATICS;

ALTERNATIVE SPLICING; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTATIONAL BIOLOGY; DYSTROPHIN; FEMALE; GENE DELETION; GENE REARRANGEMENT; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PREGNANCY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 70349309736     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-009-0679-9     Document Type: Article

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