Journal article

Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993

SL White, VR Collins, R Wolfe, MA Cleary, S Shanske, S DiMauro, HHM Dahl, DR Thorburn

The American Journal of Human Genetics | CELL PRESS | Published : 1999

DOI: 10.1086/302488

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Keywords

Point Mutation
Male
Child
Prenatal Diagnosis
Phenotype
Genetic Counseling
Mtdna Mutation
Molecular Sequence Data
Logistic Models
Gene Dosage
Female
Genetics & Heredity
T->g Mutation
Dna, Mitochondrial
Atpase-6 Gene
Leigh-Syndrome
T8993g Mutation
Mental-Retardation
Humans
Genotype
Prognosis
Narp Syndrome
Science & Technology
Mutation
Risk Assessment
Adenosine Triphosphatases
Life Sciences & Biomedicine
De-Novo Mutation
Ragged-Red Fibers
Mothers
Pedigree