Results 201 to 210 of about 1,070 (211)

Splice Site Mutation

2011
openaire   +1 more source

Severe splice site mutation preceding exon 9 of the CFTR gene

Human Molecular Genetics, 1993
Burkhard Tümmler, Thilo Dork, Tümmler Burkhard   +2 more
exaly  

A novel recurrent LIS1 splice site mutation in classic lissencephaly

American Journal of Medical Genetics, Part A, 2017
Julie Steffann, Xavier Gérard, Nathalie Boddaert   +2 more
exaly  

A novel splice site mutation in theEYA1gene in a Korean family with branchio-oto (BO) syndrome

Acta Oto-Laryngologica, 2009
Sung Hwa Hong, Won Ho Chung, Yang-Sun Cho   +2 more
exaly  

A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis

Experimental Dermatology, 2005
Benjamin Glaser
exaly  

CFTR protein analysis of splice site mutation 2789+5 G-A

Journal of Cystic Fibrosis, 2008
Burkhard Tümmler, Manfred Ballmann
exaly  

Phenotypic Expression and Origin of the Rare β-Thalassemia Splice Site Mutation HBB:c.315 + 1G>T

Hemoglobin, 2010
Cornelis Harteveld, Jacques Elion, Marc Romana   +2 more
exaly  

A compensatory base change in U1 snRNA suppresses a 5′ splice site mutation

Cell, 1986
Alan M Weiner
exaly  

Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review

Frontiers in Endocrinology
Qinghua Lu, Lu Qinghua
exaly  

Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1

Journal of Pediatric Endocrinology and Metabolism, 2014
exaly