Zobrazeno 1 - 5 of 5 pro vyhledávání: '"Leah Nye"'
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Subclinical echocardiographic abnormalities in phenotype-negative carriers of myosin-binding protein C3 gene mutation for hypertrophic cardiomyopathy
Autor: Allen G. Borowski, W.H. Wilson Tang, Leah Nye, Sabe De, Baozhong Xin, Heng Wang, James D. Thomas
Publikováno v: American heart journal. 162(2)
Background Early diastolic myocardial tissue Doppler velocities have reported to be reduced in mutation-positive patients with hypertrophic cardiomyopathy (HCM) in some studies even in the absence of left ventricular hypertrophy (LVH). Strain is a se
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12f5d4c45493c5f30f5f8408f65fd577
https://pubmed.ncbi.nlm.nih.gov/21835286
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3
A nonsense mutation of PEPD in four Amish children with prolidase deficiency
Autor: Douglas S S Kerr, Kenneth M. Kaufman, Sadamu Kurono, Vera Hupertz, Anil D'Souza, Hiroyuki Matsumoto, David L. Miller, Biji T. Kurien, David W. Lundgren, Heng Wang, Nisha C. Patel, Leah Nye, R. Hal Scofield, Andrew C. Porter, John Tumbush
Publikováno v: American journal of medical genetics. Part A. 140(6)
Encoded by the peptidase D (PEPD) gene located at 19q12-q13.11, prolidase is a ubiquitous cytosolic enzyme that catalyzes hydrolysis of oligopeptides with a C-terminal proline or hydroxyproline. We describe here four Amish children with a severe phen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34d9342ad8c4b144d41ada0a4a99dd1d
https://pubmed.ncbi.nlm.nih.gov/16470701
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Plný text Recenzováno Digitální knihovna AV ČR
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