The Genetic Defect in the De Sanctis-Cacchione Syndrome**From the Department of Pediatrics, American University of Beirut, Lebanon, and † the Department of Cell Biology and Genetics, Medical Faculty, Erasmus University Rotterdam, The Netherlands. (reprint requests to: Dr. V. M. Der Kaloustian, Department of Pediatrics, American University of Beirut, Beirut, Lebanon.)-Reference-Cited by-同舟云学术

The Genetic Defect in the De Sanctis-Cacchione Syndrome**From the Department of Pediatrics, American University of Beirut, Lebanon, and † the Department of Cell Biology and Genetics, Medical Faculty, Erasmus University Rotterdam, The Netherlands. (reprint requests to: Dr. V. M. Der Kaloustian, Department of Pediatrics, American University of Beirut, Beirut, Lebanon.)

Published:1974-11 Issue:5 Volume:63 Page:392-396
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Kaloustian Vazken M. Der,de Weerd-Kastelein E.A.,Kleijer W.J.,Keijzer W.,Bootsma D.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference22 articles.

1. Xeroderma pigmentosum: clinical and laboratory investigation of its basic defect;Reed;JAMA,1969

2. On diseases of the skin;Hebra;New Sydenham Society (Lond),1874

3. L'idiozia xerodermica;de Sanctis;Riv Sper Freniatr,1932

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1. Genetic Disorders in Lebanon;Genetic Disorders Among Arab Populations;2010

2. Gene-specific DNA repair in xeroderma pigmentosum complementation groups A, C, D, and F. Relation to cellular survival and clinical features.;Journal of Biological Chemistry;1993-03

3. Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum;Mutation Research/DNA Repair;1992-03

4. Three nonsense mutations responsible for group A xeroderma pigmentosum;Mutation Research/DNA Repair;1992-03

5. A catalogue of multiple congenital anomaly syndromes;Multiple Congenital Anomalies;1991