Mutations in the CHD7 gene: The experience of a commercial laboratory

Genetic Testing and Molecular Biomarkers

Volumn 14, Issue 6, 2010, Pages 881-891

  Bartels, Cynthia F ^a   Scacheri, Cheryl ^b   White, Lashonda ^b   Scacheri, Peter C ^a   Bale, Sherri ^b  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b GENEDX   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMODOMAIN HELICASE DNA BINDING PROTEIN 7; DNA BINDING PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CELL LEVEL; COHORT ANALYSIS; COPY NUMBER VARIATION; DNA ISOLATION; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MUTATION RATE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME CHARGE;

CHARGE SYNDROME; COHORT STUDIES; DNA HELICASES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; GENE DOSAGE; GENETIC TESTING; HUMANS; LABORATORIES, HOSPITAL; MUTATION; UNITED STATES;

EID: 78650405822     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2010.0101     Document Type: Article

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