High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genes

Human Molecular Genetics

Volumn 6, Issue 3, 1997, Pages 337-347

  Shuber, Anthony P ^a,b   Michalowsky, Lesley A ^a   Nass, G Scott ^a   Skoletsky, Joel ^a   Hire, Lisa M ^a   Kotsopoulos, Steve K ^a   Phipps, Michael F ^a   Barberio, Dana M ^a   Klinger, Katherine W ^a  

^a Genzyme Genetics ^*  (United States)

^b Exact Sciences Corporation   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; ASSAY; BETA THALASSEMIA; BREAST CANCER; CANAVAN DISEASE; CONTROLLED STUDY; CYSTIC FIBROSIS; DNA FINGERPRINTING; DNA HYBRIDIZATION; DNA SEQUENCE; FANCONI ANEMIA; GAUCHER DISEASE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN CELL; LABORATORY DIAGNOSIS; MEDICAL GENETICS; OLIGONUCLEOTIDE PROBE; POINT MUTATION; PRIORITY JOURNAL; SICKLE CELL ANEMIA; TAY SACHS DISEASE;

ALLELES; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA PROBES; ELECTROPHORESIS, POLYACRYLAMIDE GEL; GENETIC DISEASES, INBORN; GENETIC SCREENING; HUMANS; MUTATION; NUCLEIC ACID HYBRIDIZATION; POLYMERASE CHAIN REACTION;

EID: 0031057682     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.3.337     Document Type: Article

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