Assertion: chromosome deletion | /r/HasAspect | missense point mutations
Facets:
Source sentences:
text: Southern blot analysis of DNA from pedigrees with XLA cases showed restriction fragment length alterations that segregated in an X-linked recessive pattern; detailed analysis disclosed either genomic DNA deletions in the region encompassing Btk or missense point mutations resulting in nonconservative amino acid substitutions at important residues in the putative protein-tyrosine kinase domain (89).