Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion.

Hintze, Jonathan P; Kirby, Amelia; Torti, Erin; Batanian, Jacqueline R

Hintze, Jonathan P; Kirby, Amelia; Torti, Erin; Batanian, Jacqueline R.

Afiliación

Hintze JP; Department of Pediatrics, St. Louis University, St. Louis, Mo., USA.
Kirby A; Division of Medical Genetics, St. Louis University, St. Louis, Mo., USA.
Torti E; Division of Medical Genetics, St. Louis University, St. Louis, Mo., USA.
Batanian JR; Department of Pediatrics and Molecular Cytogenetics, SSM Health Cardinal Glennon Children's Hospital, St. Louis University School of Medicine, St. Louis, Mo., USA.

Mol Syndromol ; 7(2): 80-6, 2016 May.

Article en En | MEDLINE | ID: mdl-27385964

Palabras clave

Chromosome microarray analysis; Deletion mutation; Novel mutation; PEPD; Prolidase deficiency

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE País/Región como asunto: Mexico Idioma: En Revista: Mol Syndromol Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Suiza

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