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123 in total

1. Common 5' beta-globin RFLP haplotypes harbour a surprising level of ancestral sequence mosaicism.

Authors: Matthew T Webster; John B Clegg; Rosalind M Harding
Journal: Hum Genet Date: 2003-05-08 Impact factor: 4.132

2. Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome.

Authors: B Knebelmann; L Boussin; D Guerrier; L Legeai; A Kahn; N Josso; J Y Picard
Journal: Proc Natl Acad Sci U S A Date: 1991-05-01 Impact factor: 11.205

3. Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.

Authors: V C Sheffield; D R Cox; L S Lerman; R M Myers
Journal: Proc Natl Acad Sci U S A Date: 1989-01 Impact factor: 11.205

4. Molecular studies of deletions at the human steroid sulfatase locus.

Authors: L J Shapiro; P Yen; D Pomerantz; E Martin; L Rolewic; T Mohandas
Journal: Proc Natl Acad Sci U S A Date: 1989-11 Impact factor: 11.205

5. Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level.

Authors: R S Ross; R E Gregg; S W Law; J C Monge; S M Grant; K Higuchi; T J Triche; J Jefferson; H B Brewer
Journal: J Clin Invest Date: 1988-02 Impact factor: 14.808

6. Fetal hemoglobin in normal adults and beta-thalassemia heterozygotes.

Authors: A Kutlar; F Kutlar; L G Gu; S M Mayson; T H Huisman
Journal: Hum Genet Date: 1990-06 Impact factor: 4.132

7. An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families.

Authors: H H Ritchie; M R Hughes; E T Thompson; P J Malloy; Z Hochberg; D Feldman; J W Pike; B W O'Malley
Journal: Proc Natl Acad Sci U S A Date: 1989-12 Impact factor: 11.205

8. Scanning of beta-globin gene for identification of beta-thalassemia mutation in Romanian population.

Authors: R Talmaci; J Traeger-Synodinos; E Kanavakis; D Coriu; D Colita; L Gavrila
Journal: J Cell Mol Med Date: 2004 Apr-Jun Impact factor: 5.310

9. GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria.

Authors: J Marvit; A G DiLella; K Brayton; F D Ledley; K J Robson; S L Woo
Journal: Nucleic Acids Res Date: 1987-07-24 Impact factor: 16.971

10. Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.

Authors: R Myerowitz
Journal: Proc Natl Acad Sci U S A Date: 1988-06 Impact factor: 11.205