5Raue F,Frank-Rane K.Genotype-phenotype relationship in multiple endocrine neoplasia type 2.Implications for clinical management[J].Hormones (Athens),2009,8:23-28.
6Kodama H,Iihara M,Nissato S,et al.A large deletion in the succinate dehydrogenase B gene (SDHB) in a Japanese patient with abdominal paraganglioma and concomitant metastasis[J].Endocr J,2010,57(4):351-356.
7Milosevic D,Lundquist P,Cradie K,et al.Development and validation of a comprehensive mutation and deletion detection assay for SDHB,SDHC,and SDHD[J].Clin Biochem,2010,43(7-8):700-704.
8Donaghue C,Mann K,Docherty Z,et al.Combined QFPCR and MLPA molecular analysis of miscarriage products:an efficient and robust altemative to karyotype analysis[J].Prenat Diagn,2010,30(2):133-137.
9Schouten JP,McElgunn CJ,Waaijer R,et al.Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification[J].Nucleic Acids Res,2002,30(12):e57.
10Barley JP,Grimbergen AE,van Bunderen PA,et al.The first Dutch SDHB founder deletion in paragangliomapheochromocytoma patients[J].BMC Med Genet,2009,10:34.
9Valdes-Socin H,Salvi R,Daly AF,et al.Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene.N Engl J Med,2004,351:2619-2625.
10Pohlenz J,Dumitrescu A,Aumann U,et al.Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSH beta-subunit gene.J Clin Endocrinol Metab,2002,87:336-339.
