Martinelli, Simone

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. [electronic resource] - American journal of human genetics Aug 2010 - 250-7 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2010.06.015 doi


Amino Acid Substitution--genetics
Base Sequence
DNA Mutational Analysis
Female
Germ-Line Mutation--genetics
Heterozygote
Humans
Male
Molecular Sequence Data
Mutant Proteins--genetics
Noonan Syndrome--genetics
Phenotype
Proto-Oncogene Proteins c-cbl--genetics
Tumor Suppressor Proteins--genetics