Literature DB >> 4333083

Detection of heterozygote in Lesch-Nyhan disease by hair-root analysis.

D N Silvers, R P Cox, M E Balis, J Dancis.   

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Year:  1972        PMID： 4333083     DOI： 10.1056/NEJM197202242860802

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  10 in total

1.  Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes.

Authors:  T Yutaka; A L Fluharty; R L Stevens; H Kihara
Journal:  Am J Hum Genet       Date:  1978-11       Impact factor: 11.025

2.  Half chromatid mutations: transmission in humans?

Authors:  S M Gartler; U Francke
Journal:  Am J Hum Genet       Date:  1975-03       Impact factor: 11.025

3.  Hypoxanthine-guanine phosphoribosyltransferase: mosaicism in the peripheral erythrocytes of heterozygote for a normal and a mutant enzyme.

Authors:  I H Fox; P J Marchant; S LaCroix
Journal:  Biochem Genet       Date:  1976-08       Impact factor: 1.890

4.  Hair root analysis in X-linked ichthyosis.

Authors:  J Dancis; V Jansen; J Hutzler
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

5.  Evidence for the derivation of individual hair roots from three progenitor cells.

Authors:  J Dancis; D N Silvers; M E Balis; R P Cox; M S Schwartz
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

Review 6.  Molecular variation in relation to purine metabolism.

Authors:  R W Watts
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

7.  Detection of hunter heterozygotes by enzymatic analysis of hair roots.

Authors:  N Nwokoro; E F Neufeld
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

8.  The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.

Authors:  U Francke; J Felsenstein; S M Gartler; B R Migeon; J Dancis; J E Seegmiller; F Bakay; W L Nyhan
Journal:  Am J Hum Genet       Date:  1976-03       Impact factor: 11.025

9.  Purine metabolism in normal and thioguanine-resistant neuroblastoma.

Authors:  A W Wood; M A Becker; J D Minna; J E Seegmiller
Journal:  Proc Natl Acad Sci U S A       Date:  1973-12       Impact factor: 11.205

10.  Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles.

Authors:  M W Spence; A L Goldbloom; J K Burgess; D D'entremont; B A Ripley; K L Weldon
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318
  10 in total

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