Associated Papers
Functional Analysis of Four Splice-Site Variants, including a Novel Variant, on Antigen Expression and ABO Subgroup Formation.
Yang H et al.
The Journal of Molecular Diagnostics : Jmd, 2026
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Cuvertino S et al.
American Journal of Human Genetics, 2017
A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.
Abbasi AH et al.
Molecular Vision, 2008
Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome.
Harries LW et al.
Diabetologia, 2004
p53 dysfunction in B-cell chronic lymphocytic leukemia: inactivation of ATM as an alternative to TP53 mutation.
Pettitt AR et al.
Blood, 2001
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
Teraoka SN et al.
American Journal of Human Genetics, 1999
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