Mohd Hussain Shah Vishwanath Bhat Jyoti S Shetty Arun Kumar
Mol Vis
2014 Jun 12;20:790-6.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/24940034/
ADAM Proteins / genetics Exome / genetics Genetic Predisposition to Disease Mutation / genetics RNA Splice Sites / genetics Sequence Analysis, DNA Weill-Marchesani Syndrome / genetics
ADAM Proteins / genetics Exome / genetics Genetic Predisposition to Disease Mutation / genetics RNA Splice Sites / genetics Sequence Analysis, DNA Weill-Marchesani Syndrome / genetics Case Reports Research Support, Non-U.S. Gov't ADAMTS Proteins Adult Base Sequence Computational Biology Family Female Homozygote Humans India Male Middle Aged Molecular Sequence Data Phenotype RNA Splicing / genetics Reproducibility of Results Reverse Transcriptase Polymerase Chain Reaction Young Adult RNA Splice Sites ADAM Proteins ADAMTS Proteins ADAMTS17 protein, human
PMC4057248
24940034
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome
2014