首页> Diagnostics (Basel, Switzerland)> Detection of Novel Biallelic Causative Variants in <i>COL7A1</i> Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated Families.

Detection of Novel Biallelic Causative Variants in <i>COL7A1</i> Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated Families.

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第一作者： Fozia,Fozia

第一单位： Institute of Basic Medical Sciences (IBMS), Khyber Medical University (KMU), Peshawar 25100, Khyber Pakhtunkhwa, Pakistan.;Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Khyber Pakhtunkhwa, Pakistan.

作者： Fozia,Fozia ^[1] ; Rubina,Nazli ^[2] ; May Mohammed,Alrashed ^[3] ; Hazem K,Ghneim ^[3] ; Zia Ul,Haq ^[4] ; Musarrat,Jabeen ^[5] ; Sher,Alam Khan ^[6] ; Ijaz,Ahmad ^[7] ; Mohammed,Bourhia ^[8] ; Mourad A M,Aboul-Soud ^[3]

作者单位： Institute of Basic Medical Sciences (IBMS), Khyber Medical University (KMU), Peshawar 25100, Khyber Pakhtunkhwa, Pakistan.;Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Khyber Pakhtunkhwa, Pakistan. ^[1] Institute of Basic Medical Sciences (IBMS), Khyber Medical University (KMU), Peshawar 25100, Khyber Pakhtunkhwa, Pakistan. ^[2] Chair of Medical and Molecular Genetics Research, Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, P.O. Box 10219, Riyadh 11433, Saudi Arabia. ^[3] Institute of Public Health & Social Sciences (IPH&SS), Khyber Medical University (KMU), Peshawar 25100, Khyber Pakhtunkhwa, Pakistan. ^[4] Department of Gynaecology and Obstetrics, KMU Institute of Medical Sciences, Kohat 26000, Khyber Pakhtunkhwa, Pakistan. ^[5] Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Khyber Pakhtunkhwa, Pakistan. ^[6] Department of Chemistry, Kohat University of Science & Technology (KUST), Kohat 26000, Khyber Pakhtunkhwa, Pakistan. ^[7] Laboratory of Chemistry, Biochemistry, Nutrition, and Environment, Faculty of Medicine and Pharmacy, University Hassan II, Casablanca 20000, Morocco. ^[8]

关键词 COL7A1 gene autosomal recessive dystrophic epidermolysis bullosa sequence variants whole-exome sequencing

DOI 10.3390/diagnostics12071525

PMID 35885431

发布时间 2023-03-08

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Diagnostics (Basel, Switzerland)

2022年12卷7期

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Diagnostics (Basel, Switzerland)

2022年12卷7期

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Detection of Novel Biallelic Causative Variants in <i>COL7A1</i> Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated Families.

Diagnostics (Basel, Switzerland)

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Detection of Novel Biallelic Causative Variants in <i>COL7A1</i> Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated Families.

Diagnostics (Basel, Switzerland)

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Diagnostics (Basel, Switzerland)

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