1KUNKLE L M,MONACOO A P,MIDDLESWORTH W,et al.Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion[J].Proc Natl Acad Sci USA,1985,82:4778-4782. 被引量：1
3CHAMBERLAIN J S,GIBBS R A,RANIER J E,et al.Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification[J].Nucleic Acids Res,1988,16(23),11141-11156. 被引量：1
4BEGGS A H,KOENIG M,BOYCE F M,et al.Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction[J].Hum Genet,1990,86(1):45-48. 被引量：1
7BRZUSTOWICZ L M,LEHNER T,CASTILLA L H,et al.Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11*2-13*3[J].Nature,1990,344(6266):540-541. 被引量：1
8MEIKI J,ABDELHAK P,SHETH M F,et al.Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q[J].Nature,1990,344(6268):767-768. 被引量：1
10SHIANG R,THOMPSON L M,ZHU Y Z,et al.Mutations in the transmembrane domain of FGFR 3 cause the most common genetic form of dwarfism,achondroplasia[J].Cell,1994,78(2):335-342. 被引量：1
7Behrman RE,Kliegman RM,Jenson HB.Nelson Textbook of Pediatrics[M].Ed 16.Philadelphia:Sanunders CO,2000:1798. 被引量：1
8Okumiya T,Keulemans JL,Kroos MA,et al.A new diagnostic assay for glycogen storage disease type Ⅱ in mixed leukocytes[J].Mol Genet Meatb,2006,8(1):22-28. 被引量：1
