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Volumn 276, Issue 5311, 1997, Pages 404-406

Positional cloning of the gene for multiple endocrine neoplasia-type 1

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; ARTICLE; CARCINOGENESIS; CHROMOSOME 11Q; CONTROLLED STUDY; DELETION MUTANT; DNA SEQUENCE; EARLY DIAGNOSIS; FRAMESHIFT MUTATION; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; MOLECULAR CLONING; MULTIPLE ENDOCRINE NEOPLASIA; NONSENSE MUTATION; PRIORITY JOURNAL;

EID: 0030963446     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.276.5311.404     Document Type: Article
Times cited : (1756)

References (38)
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    • Confirmation that the mutation segregated with MEN1 was achieved by direct sequencing of PCR products from other affected family members. Independent confirmation of the sequence change in affected individuals was achieved by restriction digestion of the appropriate exon PCR product for 512delC (creates an Afl II site), W436R (creates Msp I and Nci I sites), and R527X (creates a Bsu 36I site). For the remainder, analysis was carried out with radioactively labeled allele-specific 16-to 20-nucleotide oligomers, corresponding to the wild-type or mutant sequence, that were hybridized to slot blots of exon PCR products as described [J. Lyons et al., Science 249, 655 (1990)].
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    • note
    • This paper is dedicated to the memory of Gerald D. Aurbach. We thank all the MEN1 families who participated and the clinicians (NIDDK-National Institute of Child Health and Human Development NIH Interinstitute Endocrine Training Program, NCI Surgery Branch, and Clinical Center Diagnostic Radiology Department) who helped care for them. We thank C. Cummings, N. Dietrich, L. Gieser, B. Pike, C. Robbins, and S. Saggar for technical support, S. Sommer for advice on the ddF procedure, D. Leja for assistance in preparing the illustrations, and P. Fakunding for manuscript preparation. Supported by the intramural research programs of NHGRI, NIDDK, NCI, and NLM, the Fritz Thyssen Stiftung Fund (C.H.), and a U.S. Department of Energy Graduate Fellowship (J.S.C.).


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