Title of article :
Diagnosis of Xeroderma pigmentosum C by detection of the founder mutation c.1643_1644delTG (p.Val548AlafsX25) in a Sudanese Family
Author/Authors :
El-Harith, El-Harith A. University of Dammam - College of Medicine, Saudi Arabia , Pahl, Lisa Institute of Human Genetics - Medical School of Hannover, Germany , Al-Nutaifi, Khlood University of Dammam - College of Medicine, Saudi Arabia , Bukhari, Iqbal University of Dammam - College of Medicine, Saudi Arabia , Schmidtke, Joerg Institute of Human Genetics - Medical School of Hannover, Germany , Stuhrmann, Manfred Institute of Human Genetics - Medical School of Hannover, Germany
From page :
85
To page :
86
Abstract :
Xeroderma pigmentosum (XP, OMIM 278700–278780) is a rare cutaneous autosomal recessive disorder associated with severe morbidity and poor prognosis.
Journal title :
Journal of the Saudi Society of Dermatology and Dermatologic Surgery
Journal title :
Journal of the Saudi Society of Dermatology and Dermatologic Surgery
Record number :
2694134
Link To Document :
بازگشت