Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes

The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria

(2010) Katerina Homolova et al.   HUMAN MUTATION

Missed threads. The impact of pre-mRNA splicing defects on clinical practice

(2009) Diana Baralle et al.   EMBO REPORTS

Silent exonic mutation in the acid-α-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing

(2009) Mireguli Maimaiti et al.   JOURNAL OF HUMAN GENETICS

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations

(2009) Sueli M. Oba-Shinjo et al.   JOURNAL OF NEUROLOGY

SROOGLE: webserver for integrative, user-friendly visualization of splicing signals

(2009) S. Schwartz et al.   NUCLEIC ACIDS RESEARCH

Alternative splicing and disease

(2008) Jamal Tazi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

(2008) Marian Kroos et al.   HUMAN MUTATION

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease

(2008) MG Pittis et al.   HUMAN MUTATION

Evaluation of in silico splice tools for decision-making in molecular diagnosis

(2008) Claude Houdayer et al.   HUMAN MUTATION

Prediction and assessment of splicing alterations: implications for clinical testing

(2008) Amanda B. Spurdle et al.   HUMAN MUTATION

Intronic variants inBRCA1andBRCA2that affect RNA splicing can be reliably selected by splice-site prediction programs

(2008) Maaike P.G. Vreeswijk et al.   HUMAN MUTATION

Early administration of enzyme replacement therapy for Pompe disease: Short-term follow-up results

(2008) M. A. Hamdan et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

(2008) L. Wan et al.   JOURNAL OF NEUROLOGY

Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency

(2008) A. C. Nascimbeni et al.   NEUROLOGY