Results 251 to 258 of about 91,518 (258)

A hitherto unknown splice site defect in the protein S gene (PROS1): the mutation results in allelic exclusion and causes type I and type III protein S deficiency

British Journal of Haematology, 1997
Christine Mannhalter, Michael A Fischer, Ingrid Pabinger   +2 more
exaly  

A novel recurrent LIS1 splice site mutation in classic lissencephaly

American Journal of Medical Genetics, Part A, 2017
Julie Steffann, Nadia Bahi-Buisson, Alice Goldenberg   +2 more
exaly  

A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency

Journal of Human Genetics, 2003
Ronald Wanders, Lambert P van den Heuvel, Hans R Scholte   +2 more
exaly  

A homozygous splice site mutation in causes intellectual disability and microcephaly

European Journal of Medical Genetics, 2012
Guntram Borck, Christian Kubisch, Naseebullah Kakar   +2 more
exaly  

An IVS1–116 (A→G) acceptor splice site mutation in the α2 globin gene causing α+ thalassaemia in two Dutch families

British Journal of Haematology, 1996
Piero C Giordano, M Losekoot, C L Harteveld   +2 more
exaly  

Identification of a Novel Splice Site Mutation of the CSPG2 Gene in a Japanese Family with Wagner Syndrome

Investigative Ophthalmology and Visual Science, 2005
Tatsuro Miyamoto, Hiroshi Shiota, Mitsuo Itakura   +2 more
exaly  

Two distinct mutations in a single dystrophin gene: Identification of an altered splice-site as the primary becker muscular dystrophy mutation

American Journal of Medical Genetics, Part A, 1993
exaly  

Nonsense mutations and altered splice-site selection.

American journal of human genetics, 1997
openaire   +1 more source