Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b)

被引：0
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作者：
Maryam Eghbali
Maryam Abiri
Saeed Talebi
Zahra Noroozi
Marjan Shakiba
Parastoo Rostami
Hosein Alimadadi
Mehri Najafi
Fatemeh Yazarlou
Ali Rabbani
Mohammad Hossein Modarressi
机构：
[1] Tehran University of Medical Sciences,Department of Medical Genetics, Faculty of Medicine
[2] Iran University of Medical Sciences,Department of Medical Genetics and Molecular Biology, Faculty of Medicine
[3] Tehran University of Medical Sciences,Department of Molecular Medicine, School of Advanced Technologies in Medicine
[4] Shahid Beheshti University of medical sciences,Department of Pediatric Endocrinology and Metabolism, Mofid Children’s Hospital
[5] Tehran University of Medical Sciences,Growth and Development Research Center, Department of Endocrinology, Children’s Medical Center
[6] Tehran University of Medical Science,Department of Gastroenterology, Children’s Medical Center
来源：
Orphanet Journal of Rare Diseases | / 15卷
关键词：
GSD1b; Autozygosity mapping; Novel variants; Genotype-phenotype correlation;
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