Detection of large gene rearrangements in X-linked genes by dosage analysis: Identification of novel α-galactosidase A (GLA) deletions causing Fabry disease

Human Mutation

Volumn 32, Issue 6, 2011, Pages 688-695

  Dobrovolny, Robert ^a   Nazarenko, Irina ^a   Kim, Jungmin ^a   Doheny, Dana ^a   Desnick, Robert J ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Alu Alu recombination; Gene rearrangements; Sequencing; Slipped mispairing

Indexed keywords

ALPHA GALACTOSIDASE; GENOMIC DNA;

ADOLESCENT; ADULT; AMPLICON; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EXON; FABRY DISEASE; FEMALE; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; INTRON; KIDNEY BIOPSY; MALE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SEX DIFFERENCE; SEX RATIO;

ADOLESCENT; ALPHA-GALACTOSIDASE; ALU ELEMENTS; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; FABRY DISEASE; FEMALE; GENE DOSAGE; GENES, X-LINKED; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; SEQUENCE DELETION;

EID: 79957627678     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21474     Document Type: Article

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