相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Early screening the small bowel is key to protect Peutz-Jeghers syndrome patients from surgery: a novel mutation c.243delG in STK11 gene
Yu-Liang Jiang et al.
BMC GASTROENTEROLOGY (2019)
STK11 gene analysis reveals a significant number of splice mutations in Chinese PJS patients
Yu-Liang Jiang et al.
CANCER GENETICS (2019)
Complete STK11 Deletion and Atypical Symptoms in Peutz-Jeghers Syndrome
Myeong Sun Jang et al.
ANNALS OF LABORATORY MEDICINE (2017)
A 23-Nucleotide Deletion in STK11 Gene Causes Peutz-Jeghers Syndrome and Malignancy in a Chinese Patient Without a Positive Family History
Zi-Ye Zhao et al.
DIGESTIVE DISEASES AND SCIENCES (2017)
A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report
Jing-Hui Chen et al.
BMC MEDICAL GENETICS (2017)
SIFT missense predictions for genomes
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Clinical features, endoscopic polypectomy and STK11 gene mutation in a nine-month-old Peutz-Jeghers syndrome Chinese infant
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
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Rectal Carcinoma in a Young Female Patient with Peutz-Jeghers Syndrome: A Case Report
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Large deletions and splicing-site mutations inthe STK11 gene in Peutz-Jeghers Chilean families
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Germline Mutation Analysis of STK11 Gene Using Direct Sequencing and Multiplex Ligation-Dependent Probe Amplification Assay in Korean Children with Peutz-Jeghers Syndrome
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Peutz-Jeghers syndrome and management recommendations
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CLINICAL GASTROENTEROLOGY AND HEPATOLOGY (2006)
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AMERICAN JOURNAL OF GASTROENTEROLOGY (2005)
MO25α/β interact with STRADα/β enhancing their ability to bind, activate and localize LKB1 in the cytoplasm
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Very high risk of cancer in familial Peutz-Jeghers syndrome
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