Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy
Objective: To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy. Method: Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant doma...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 55(2017), 10 vom: 02. Okt., Seite 780-784
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| 1. Verfasser: |
Liu, X H
(VerfasserIn) |
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| Weitere Verfasser: |
Ding, W W,
Han, L,
Liu, X R,
Xiao, Y Y,
Yang, J,
Mo, Y |
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| Format: | Online-Aufsatz
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| Sprache: | Chinese |
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| Veröffentlicht: |
2017
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics
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| Schlagworte: | Journal Article
Cardiomyopathy, hypertrophic
Mutation
Noonan syndrome
Protein Tyrosine Phosphatase, Non-Receptor Type 11
EC 3.1.3.48 |
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