Literature DB >> 3093864

The molecular basis of severe hemophilia B in a girl.

P Nisen, J Stamberg, R Ehrenpreis, S Velasco, A Shende, J Engelberg, G Karayalcin, L Waber.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1986        PMID： 3093864     DOI： 10.1056/NEJM198610303151806

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


× No keyword cloud information.
  13 in total

Review 1.  Alport syndrome, basement membranes and collagen.

Authors:  C E Kashtan; M M Kleppel; R J Butkowski; A F Michael; A J Fish
Journal:  Pediatr Nephrol       Date:  1990-09       Impact factor: 3.714

2.  Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency.

Authors:  A L Jørgensen; J Philip; W H Raskind; M Matsushita; B Christensen; V Dreyer; A G Motulsky
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

3.  X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation.

Authors:  X D Bu; J I Rotter
Journal:  Proc Natl Acad Sci U S A       Date:  1991-09-15       Impact factor: 11.205

4.  Mathematical model of thrombin generation and bleeding phenotype in Amish carriers of Factor IX:C deficiency vs. controls.

Authors:  S Gupta; M C Bravo; M Heiman; C Nakar; K Brummel-Ziedins; C H Miller; A Shapiro
Journal:  Thromb Res       Date:  2019-08-08       Impact factor: 3.944

5.  Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.

Authors:  A Pelet; A Rotig; C Bonaïti-Pellié; D Rabier; V Cormier; E Toumas; D Hentzen; J M Saudubray; A Munnich
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

Review 6.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

7.  Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

Authors:  S A Taylor; K V Deugau; D P Lillicrap
Journal:  Proc Natl Acad Sci U S A       Date:  1991-01-01       Impact factor: 11.205

8.  Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

Authors:  N Dahl; L J Hu; M Chery; M Fardeau; S Gilgenkrantz; A Nivelon-Chevallier; I Sidaner-Noisette; F Mugneret; J B Gouyon; A Gal
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

9.  Molecular analysis of a female Lesch-Nyhan patient.

Authors:  N Ogasawara; J T Stout; H Goto; S Sonta; A Matsumoto; C T Caskey
Journal:  J Clin Invest       Date:  1989-09       Impact factor: 14.808

Review 10.  Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation.

Authors:  A F van Lieburg; M A Verdijk; F Schoute; M J Ligtenberg; B A van Oost; F Waldhauser; M Dobner; L A Monnens; N V Knoers
Journal:  Hum Genet       Date:  1995-07       Impact factor: 4.132
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.