Maslen, C <br/><br/>
A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.  [electronic resource] 

 -  American journal of human genetics  Jun 1997 
 - 1389-98 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/515472  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Aged<br/>Alternative Splicing<br/>Base Sequence<br/>Calcium-Binding Proteins--biosynthesis<br/>Child<br/>Connective Tissue Diseases--congenital<br/>Contracture--congenital<br/>DNA Primers<br/>Female<br/>Fibrillin-2<br/>Fibrillins<br/>Genes, Dominant<br/>Genetic Linkage<br/>Humans<br/>Male<br/>Microfilament Proteins--biosynthesis<br/>Middle Aged<br/>Pedigree<br/>Point Mutation<br/>Polymerase Chain Reaction<br/>Syndrome