Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NF-1).
作者信息
Riccardi V M
出版信息
Am J Hum Genet. 1993 Aug;53(2):301-4.
Abstract
摘要
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Methylation and imprinting: from host defense to gene regulation?甲基化与印记：从宿主防御到基因调控？
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Abnormalities of chromosome 22 in human brain tumors determined by combined cytogenetic and molecular genetic approaches.采用细胞遗传学和分子遗传学联合方法确定人脑肿瘤中22号染色体的异常情况。
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5
An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.1型神经纤维瘤病（NF1）表达变异分析：修饰基因的证据
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Neurofibromatosis: clinical heterogeneity.神经纤维瘤病：临床异质性。
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Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants.冯雷克林霍增氏神经纤维瘤病的外显率：前辈与后代的区别。
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Familiarity, recessivity and germline mosaicism.
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Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients.1型神经纤维瘤病基因：在三名1型神经纤维瘤病患者中发现一个大转录本被破坏。
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Watson syndrome: is it a subtype of type 1 neurofibromatosis?
J Med Genet. 1991 Nov;28(11):752-6. doi: 10.1136/jmg.28.11.752.
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