Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance

Quantitative determination of allele frequency in pooled DNA by using sequencing method

(2011) Peng Cao et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome

(2010) K. C. Dowdell et al.   BLOOD

Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop

(2010) J. B. Oliveira et al.   BLOOD

Identification of a lysine-rich region of Fas as a raft nanodomain targeting signal necessary for Fas-mediated cell death

(2010) Aurélie Rossin et al.   EXPERIMENTAL CELL RESEARCH

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

(2010) Aude Magerus-Chatinet et al.   JOURNAL OF CLINICAL INVESTIGATION

The mutational spectrum of holoprosencephaly-associated changes within theSHHgene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

(2009) Erich Roessler et al.   HUMAN MUTATION

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Hereditary Angioedema

(2008) Bruce L. Zuraw   NEW ENGLAND JOURNAL OF MEDICINE