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A nonsense mutation of PEPD in four Amish children with prolidase deficiency.
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A nonsense mutation of PEPD in four Amish children with prolidase deficiency.
A nonsense mutation of PEPD in four Amish children with prolidase deficiency. Am J Med Genet A. 2006 Mar 15; 140(6):580-5.
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PubMed
subject areas
Abnormalities, Multiple
Abnormalities, Multiple
Base Sequence
Base Sequence
Child
Child
Codon, Nonsense
Codon, Nonsense
Dipeptidases
Dipeptidases
DNA Mutational Analysis
DNA Mutational Analysis
Family Health
Family Health
Female
Female
Hepatomegaly
Hepatomegaly
Humans
Humans
Male
Male
Pedigree
Pedigree
Skin Ulcer
Skin Ulcer
Splenomegaly
Splenomegaly
authors with profiles
R Hal Scofield