Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.

Tartaglia, Marco

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. [electronic resource] - American journal of human genetics Sep 2004 - 492-7 p. digital

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

0002-9297

10.1086/423493 doi


CpG Islands
DNA Mutational Analysis
Exons
Facies
Fathers
Female
Genes, Dominant
Genotype
Germ-Line Mutation
Haplotypes
Humans
Intracellular Signaling Peptides and Proteins
Introns
Male
Mutation
Noonan Syndrome--genetics
Phenotype
Polymerase Chain Reaction
Protein Tyrosine Phosphatase, Non-Receptor Type 11
Protein Tyrosine Phosphatases--genetics
Sex Factors
Sex Ratio