Joseph A Church
10.1371/journal.pmed.0030015
PLoS Med
2006 Jan;3(1):e15.
CC BY
https://pubmed.ncbi.nlm.nih.gov/16435889/
Genetic Diseases, Inborn / diagnosis Proteins / genetics Pseudogenes / genetics
Genetic Diseases, Inborn / diagnosis Proteins / genetics Pseudogenes / genetics Case Reports Adult Diagnosis, Differential Dietary Fats / metabolism Female Genetic Diseases, Inborn / genetics Heterozygote Humans Malabsorption Syndromes / diagnosis Malabsorption Syndromes / genetics Malabsorption Syndromes / metabolism Mutation Neutropenia / diagnosis Neutropenia / genetics Respiratory Tract Infections / diagnosis Respiratory Tract Infections / genetics Time Factors Dietary Fats Proteins SBDS protein, human
PMC1360621
16435889
A pediatric genetic disorder diagnosed in adulthood
2006