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Compound heterozygosity
Diagnosis of Sickle Cell Disease and HBB Haplotyping in the Era of Personalized Medicine: Role of Next Generation Sequencing
Diagnosis of Hemochromatosis in Family Members of Probands: a Comparison of Phenotyping And
Compound Heterozygous C282Y/H63D Mutation in Hemochromatosis: a Case Report
Tay Sachs Disease Carrier Screening in the Ashkenazi Jewish Population
The Molecular Basis of Phenylketonuria and Hyperphenylalaninemia in Latvia
Evidence for an Association Between Compound Heterozygosity for Germ Line Mutations in the Hemochromatosis (HFE) Gene and Increased Risk of Colorectal Cancer
H63D Compound Heterozygotes Wael Toama1*, Almaan El-Attrache1, Neel Patel1 and Frederick T
Implications for Wilson Disease Prevalence And
The Atomic Model of the Human Protective Protein/Cathepsin A
Phenylketonuria: Variable Phenotypic Outcomes of the R261Q Mutation and Maternal PKU in J Med Genet: First Published As 10.1136/Jmg.30.4.284 on 1 April 1993
Compound Heterozygosity of Hb Qindia (Α64 (E13) ASP→HIS) And
Pathophysiology of Compound Heterozygotes Involving Hemoglobinopathies and Thalassemias
Characterization of Phenylketonuria Alleles in the Italian Population
Mutation Analysis of 73 Southern Chinese Wilson&Apos;S
Clinical Utility Gene Card For: Phenylketonuria
Analysis of the Global Frequency and Penetrance of ATP7B Variants
Disorders of Metal Metabolism Carlos Ferreira George Washington University
The Mildly Unstable Hb Tyne (Codon 5 Pro→Ser) and Hbs (Codon 6 Glu→Val)
Top View
Scientific and Standardization Committee Communication Protein S Deficiency: a Database of Mutations - FIRST UPDATE
Lysosomal Storage Diseases
HFE-Associated Hereditary Hemochromatosis Jacob Alexander, MD1, and Kris V
Gene Transfer in the Sandhoff Murine Model Using a Specific Recombinant AAV9 Vector