Anticipation in hereditary disease: The history of a biomedical concept

Human Genetics

Volumn 130, Issue 6, 2011, Pages 705-714

  Friedman, Judith E ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

BLINDNESS; BULBAR PARALYSIS; CHILDHOOD DISEASE; DIABETES MELLITUS; DISEASE SEVERITY; DNA METHYLATION; DNA REPLICATION; EPIGENETICS; FRAGILE X SYNDROME; GENE DELETION; GENE INSERTION; GENETIC DISORDER; GENETIC HETEROGENEITY; HEALTH CARE CONCEPTS; HEREDITY; HISTORY OF MEDICINE; HUMAN; HUMAN GENETICS; HUNTINGTON CHOREA; INTELLECTUAL IMPAIRMENT; LEBER HEREDITARY OPTIC NEUROPATHY; MATHEMATICAL GENETICS; MEDICAL LITERATURE; MEDICAL SPECIALIST; MENTAL DISEASE; MYOTONIC DYSTROPHY; NONHUMAN; POINT MUTATION; POLITICS; PRIORITY JOURNAL; PSYCHIATRIST; QUANTITATIVE GENETICS; REVIEW; SCHIZOPHRENIA; SCIENCE; SOCIAL ASPECT; SOCIETY; TRINUCLEOTIDE REPEAT; WAR;

AGE OF ONSET; ANIMALS; ANTICIPATION, GENETIC; GENETIC DISEASES, INBORN; HUMANS;

EID: 82555192506     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-011-1022-9     Document Type: Review

References (107)

1. WJ Adie JG Greenfield 1923 Dystrophia myotonica (myotonia atrophica) Brain 46 1 73 127 10.1093/brain/46.1.73
2. C Aslanidis G Jansen C Amemiya G Shutler M Mahadevan C Tsilfidis C Chen J Alleman NG Wormskamp M Vooijs, et al. 1992 Cloning of the essential myotonic dystrophy region and mapping of the putative defect Nature 355 6360 548 551 1346925 1:CAS:528:DyaK38Xht1Kiurk%3D 10.1038/355548a0
3. Baur E, Fischer E, Lenz F (1923) Grundriss der menschlichen Erblichkeitslehre und Rassenhygiene. J. F. Lehmann, München
4. Bell J (1947) The treasury of human inheritance. vol. 4, nervous diseases and muscular dystrophies, part 5: dystrophia myotonica and allied diseases with clinical notes by J. Purdon Martin. Cambridge University Press, Cambridge
5. M Boehnke PM Conneally K Lange 1983 Two models for a maternal factor in the inheritance of Huntington disease Am J Hum Genet 35 5 845 860 6225335 1:STN:280:DyaL3szgsFOlsA%3D%3D (Pubitemid 13008582)
6. Bowler PJ (2003) Evolution: the history of an idea, 3rd edn. University of California Press, Berkeley
7. JD Brook ME McCurrach HG Harley AJ Buckler D Church H Aburatani K Hunter VP Stanton JP Thirion T Hudson, et al. 1992 Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member Cell 68 4 799 808 1310900 1:CAS:528:DyaK38XhsV2ntLo%3D 10.1016/0092-8674(92)90154-5
8. S Bundey CO Carter 1972 Genetic heterogeneity for dystrophia myotonica J Med Genet 9 3 311 315 5079102 1:STN:280:DyaE3s%2FitlCktQ%3D%3D 10.1136/jmg.9.3.311
9. J Buxton P Shelbourne J Davies C Jones T Van Tongeren C Aslanidis P de Jong G Jansen M Anvret B Riley, et al. 1992 Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy Nature 355 6360 547 548 1346924 1:CAS:528:DyaK38Xht1Kiurg%3D 10.1038/355547a0
10. Carlson EA (2001) The unfit: a history of a bad idea. Cold Spring Harbor Laboratory Press, Cold Spring Harbor
11. JE Caughey J Barclay 1954 Dystrophia myotonica and the occurrence of congenital physical defect in affected families Australas Ann Med 3 3 165 170 13198770 1:STN:280:DyaG2M%2FhtVelug%3D%3D
12. CB Davenport 1915 Huntington's chorea in relation to heredity and eugenics Proc Natl Acad Sci USA 1 5 283 285 16575999 1:STN:280: DC%2BD28zhsVOlsA%3D%3D 10.1073/pnas.1.5.283
13. Dowbiggin IR (1985) Degeneration and hereditarianism in French mental medicine 1840-90: psychiatric theory as ideological adaptation. In: Bynum WF, Porter R, Shepherd M (eds) The anatomy of madness: essays in the history of psychiatry, vol 1: people and ideas. Tavistock Publications, London, pp 188-232
14. Editor 1931 Notes of the quarter Eugen Rev 22 4 235 238
15. Entres JL (1921) Zur Klinik und Vererbung der Huntingtonschen Chorea. Julius Springer, Berlin
16. RP Erickson 1985 Chromosomal imprinting and the parent transmission specific variation in expressivity of Huntington disease Am J Hum Genet 37 4 827 829 9556671 1:STN:280:DyaK1c3hslCitQ%3D%3D
17. A Franceschetti D Klein 1946 Über einen Stammbaum von myotonischer Dystrophie mit Anteposition und Potenzierung Arch Julius Klaus Stift Vererbungsforsch Sozialanthropol Rassenhyg 21 3-4 315 322 20245968 1:STN:280:DyaH2s%2FgslCrsA%3D%3D
18. Friedman JE (2008) Coming full circle: the development, rise fall and return of the concept of anticipation in hereditary disease. Ph.D. Thesis, University of Victoria, Victoria
19. U Froster-Iskenius A Schulze E Schwinger 1984 Transmission of the marker X syndrome trait by unaffected males: conclusions from studies of large families Hum Genet 67 4 419 427 6593289 1:STN:280:DyaL2M%2FivFSisA%3D%3D 10.1007/BF00291403 (Pubitemid 14047393)
20. YH Fu DP Kuhl A Pizzuti M Pieretti JS Sutcliffe S Richards AJ Verkerk JJ Holden RG Fenwick Jr ST Warren, et al. 1991 Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox Cell 67 6 1047 1058 1760838 1:CAS:528:DyaK38XhtVekurk%3D 10.1016/0092-8674(91) 90283-5 (Pubitemid 121001519)
21. YH Fu A Pizzuti RG Fenwick Jr J King S Rajnarayan PW Dunne J Dubel GA Nasser T Ashizawa P de Jong, et al. 1992 An unstable triplet repeat in a gene related to myotonic muscular dystrophy Science 255 5049 1256 1258 1546326 1:CAS:528:DyaK3sXhvV2hs7Y%3D 10.1126/science.1546326
22. R Goldschmidt 1938 'Progressive heredity' and 'anticipation': the possibility of a genetic explanation of certain odd hereditary phenomena observed in man J Hered 29 4 140 142
23. HG Harley JD Brook SA Rundle S Crow W Reardon AJ Buckler PS Harper DE Housman DJ Shaw 1992 Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy Nature 355 6360 545 546 1346923 1:CAS:528:DyaK38XhslWmsbg%3D 10.1038/355545a0
24. PS Harper 1975 Congenital myotonic dystrophy in Britain. II. genetic basis Arch Dis Child 50 7 514 521 1167063 1:STN:280:DyaE28%2FjvVKrug%3D%3D 10.1136/adc.50.7.514
25. Harper PS (1989) Myotonic dystrophy, 2nd edn. W. B. Saunders, London
26. Harper PS (1990) Myotonic dystrophy and related disorders. In: Emery AEH, Rimoin DL (eds) Principles and practice of medical genetics, vol 1, 2nd edn. Churchill Livingstone, Edinburgh, pp 579-597
27. Harper PS (ed) (1991) Huntington's disease. W. B. Saunders, London
28. Harper PS (2008) A short history of medical genetics. Oxford University Press, Oxford
29. PS Harper PR Dyken 1972 Early onset dystrophia myotonica-evidence supporting a maternal environmental factor Lancet 300 7767 53 55 10.1016/S0140-6736(72)91548-6
30. PS Harper HG Harley W Reardon DJ Shaw 1992 Anticipation in myotonic dystrophy: new light on an old problem Am J Hum Genet 51 1 10 16 1609789 1:STN:280:DyaK38zgtlGmtw%3D%3D
31. H Harris 1973 Lionel Sharples Penrose, 1898-1972 Biogr Mem Fellows R Soc 19 521 561 11615728 1:STN:280:DC%2BD3Mrot12hsA%3D%3D 10.1098/rsbm.1973.0019
32. D Heron 1914 An examination of some recent studies of the inheritance factor in insanity Biometrika 10 356 383
33. R Holliday 1987 The inheritance of epigenetic defects Science 238 4824 163 170 3310230 1:CAS:528:DyaL2sXmtFalsr8%3D 10.1126/science.3310230 (Pubitemid 17139717)
34. Höweler CJ (1986) A clinical and genetic study in myotonic dystrophy. MD Thesis, Erasmus University Rotterdam, Rotterdam
35. CJ Höweler HF Busch JP Geraedts MF Niermeijer A Staal 1989 Anticipation in myotonic dystrophy: fact or fiction? Brain 112 3 779 797 2731029 10.1093/brain/112.3.779 (Pubitemid 19151170)
36. MH Israel 1987 Autosomal suppressor gene for fragile-X: an hypothesis Am J Med Genet 26 1 19 31 3812562 1:STN:280:DyaL2s7isV2mtA%3D%3D 10.1002/ajmg.1320260106 (Pubitemid 17196439)
37. Kay LE (1993) The molecular vision of life: Caltech, the Rockefeller Foundation, and the rise of the new biology. Oxford University Press, New York
38. Kevles DJ (1995) In the name of eugenics: genetics and the uses of human heredity. Harvard University Press, Cambridge
39. D Klein 1954 Manifestations progressives et extensives d'une dystrophie myotonique dans une famille argovienne Confin Neurol 14 2-3 169 175 13190861 1:STN:280:DyaG2M%2Fgt1Cnsg%3D%3D 10.1159/000105706
40. Kolata G (1992) Geneticists find defect worsens over generations. New York Times, February 6, 1992, p A1
41. Krementsov NL (1997) Stalinist science. Princeton University Press, Princeton
42. EJ Kremer M Pritchard M Lynch S Yu K Holman E Baker ST Warren D Schlessinger GR Sutherland RI Richards 1991 Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n Science 252 5013 1711 1714 1675488 1:CAS:528:DyaK3MXltVOmsLc%3D 10.1126/science.1675488 (Pubitemid 21917094)
43. Krige J (2006) American hegemony and the postwar reconstruction of science in Europe. MIT Press, Cambridge
44. R Kwakami 1926 Beiträge zur Vererbung der familiären Sehnervenatrophie Albrecht Von Graefes Arch Ophthalmol 116 568 595 10.1007/BF01853021
45. AR La Spada EM Wilson DB Lubahn AE Harding KH Fischbeck 1991 Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy Nature 352 6330 77 79 2062380 1:CAS:528:DyaK3MXmt1Gju74%3D 10.1038/352077a0 (Pubitemid 21896702)
46. CD Laird 1987 Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardation Genetics 117 3 587 599 3692144 1:STN:280:DyaL1c%2FosVeluw%3D%3D
47. CD Laird 1990 Proposed genetic basis of Huntington's disease Trends Genet 6 8 242 247 2146788 1:STN:280:DyaK3M%2FkvVymtw%3D%3D 10.1016/0168-9525(90) 90206-L (Pubitemid 20240771)
48. DH Ledbetter SA Ledbetter RL Nussbaum 1986 Implications of fragile X expression in normal males for the nature of the mutation Nature 324 6093 161 163 3785381 1:STN:280:DyaL2s%2FmsFSntQ%3D%3D 10.1038/324161a0 (Pubitemid 17180629)
49. Lloyd GER (ed) (1983) Hippocratic writings. Penguin Books, London
50. Lombardo PA (2008) Three generations, no imbeciles: eugenics, the Supreme Court, and Buck v. Bell. Johns Hopkins University Press, Baltimore
51. C Lopez-Beltran 1994 Forging heredity: from metaphor to cause, a reification story Stud Hist Philos Sci 25 2 211 235 11639899 1:STN:280:DC%2BD3MngsVWrtQ%3D%3D 10.1016/0039-3681(94)90028-0
52. HA Lubs 1969 A marker X chromosome Am J Hum Genet 21 3 231 244 5794013 1:STN:280:DyaF1M3jsVeksA%3D%3D
53. Lucas P (1847-1850) Traité philosophique et physiologique de l'hérédité naturelle dans les états de santé et de maladie du système nerveux. J. B. Baillière, Paris
54. M Mahadevan C Tsilfidis L Sabourin G Shutler C Amemiya G Jansen C Neville M Narang J Barcelo K O'Hoy, et al. 1992 Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene Science 255 5049 1253 1255 1546325 1:CAS:528:DyaK38XhslWmurk%3D 10.1126/science.1546325
55. JP Martin J Bell 1943 A pedigree of mental defect showing sex-linkage J Neurol Psychiatry 6 154 157 21611430 1:STN:280:DC%2BC3MrkvFWmsg%3D%3D 10.1136/jnnp.6.3-4.154
56. Mazumdar PMH (1992) Eugenics, human genetics, and human failings: the Eugenics Society, its sources and its critics in Britain. Routledge, London
57. McLaren A (1990) Our own master race: eugenics in Canada, 1885-1945. Oxford University Press, Toronto
58. CT McMurray 2010 Mechanisms of trinucleotide repeat instability during human development Nat Rev Genet 11 11 786 799 20953213 1:CAS:528: DC%2BC3cXhtlShsLvF 10.1038/nrg2828
59. Merritt A, Conneally DPM, Rahman NF, Drew AL (1969) Juvenile Huntington's chorea. In: Barbeau A, Brunette J-R (eds) Progress in neurogenetics. Proceedings of the second international congress of neuro-genetics and neuro-ophthalmology of the World Federation of Neurology, vol 1. Excerpta Medica Foundation, Amsterdam, pp 645-650
60. SM Mirkin 2007 Expandable DNA repeats and human disease Nature 447 7147 932 940 17581576 1:CAS:528:DC%2BD2sXms12jsrc%3D 10.1038/nature05977 (Pubitemid 46975760)
61. Morel BA (1857) Traité des dégénérescences physiques, intellectuelles et morales de l'espèce humaine et des causes qui produisent ces variétés maladives. J. B. Baillière, Paris
62. Morel BA (1860) Traité des maladies mentales. Victor Masson, Paris
63. FW Mott 1910 The Huxley lecture on hereditary aspects of nervous and mental diseases Lancet 176 4545 1057 1064 10.1016/S0140-6736(01)33665-6
64. FW Mott 1911 Heredity and insanity Eugen Rev 2 4 257 281 21259503 1:STN:280:DC%2BC3MzjvFKgtw%3D%3D
65. FW Mott 1911 A lecture on heredity and insanity Lancet 177 4576 1251 1259 10.1016/S0140-6736(01)62613-8
66. Mott FW (1912) Heredity and eugenics in relation to insanity. In: Problems in eugenics: papers communicated to the first international eugenics congress. Eugenics Society, London, pp 400-428
67. HJ Muller 1949 Progress and prospects in human genetics Am J Hum Genet 1 1 1 18 17948379 1:STN:280:DC%2BD2snjtFGgsg%3D%3D
68. RH Myers D Goldman ED Bird DS Sax CR Merril M Schoenfeld PA Wolf 1983 Maternal transmission of Huntington's disease Lancet 321 8318 208 210 10.1016/S0140-6736(83)92587-4
69. E Nettleship 1905 On heredity in the various forms of cataract Roy Lond Ophthal Hosp Rep 16 179 246
70. E Nettleship 1909 On some hereditary diseases of the eye. Being the Bowman lecture delivered on Thursday, June 10th, 1909 Trans Ophthalmol Soc UK 29 52 198
71. E Nettleship 1910 Some points on the heredity of disease St Thos Hosp Gaz 20 37 65
72. Nordau MS (1968) Degeneration. Translated from the second edition of the German work (1895) with an introduction by George L. Mosse. Howard Fertig, New York
73. RL Nussbaum SD Airhart DH Ledbetter 1986 Recombination and amplification of pyrimidine-rich sequences may be responsible for initiation and progression of the Xq27 fragile site: an hypothesis Am J Med Genet 23 1-2 715 721 3456708 1:STN:280:DyaL287lsF2hsg%3D%3D 10.1002/ajmg.1320230162 (Pubitemid 16139773)
74. I Oberle F Rousseau D Heitz C Kretz D Devys A Hanauer J Boue M Bertheas J Mandel 1991 Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome Science 252 5009 1097 1102 1:CAS:528:DyaK3MXksVehs7c%3D 10.1126/science.252.5009.1097 (Pubitemid 21917021)
75. JM Opitz 1986 On the gates of hell and a most unusual gene Am J Med Genet 23 1-2 1 10 3953638 1:STN:280:DyaL287lsFylsw%3D%3D
76. AS Paterson 1932 'Anticipation' in mental disease Eugen Rev 24 3 191 193 21260048 1:STN:280:DC%2BC3MzkvFyktQ%3D%3D
77. Paul DB (1998) Eugenic origins of medical genetics. In: The politics of heredity: essays on eugenics, biomedicine, and the nature-nurture debate. State University of New York Press, Albany, pp 133-156
78. K Pearson 1912 On an apparent fallacy in the statistical treatment of "antedating" in the inheritance of pathological conditions Nature 90 2247 334 335 10.1038/090334b0
79. K Pearson 1931 On the inheritance of mental disease Ann Eugen 4 362 380 10.1111/j.1469-1809.1931.tb02085.x
80. ME Pembrey RM Winter KE Davies 1985 A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation Am J Med Genet 21 4 709 717 4040705 1:STN:280:DyaL2M3ns1eqtg%3D%3D 10.1002/ajmg.1320210413 (Pubitemid 15237654)
81. O Penagarikano JG Mulle ST Warren 2007 The pathophysiology of fragile X syndrome Annu Rev Genomics Hum Genet 8 109 129 17477822 1:CAS:528: DC%2BD2sXht1Wksr3K 10.1146/annurev.genom.8.080706.092249
82. Penrose LS (1933) The influence of heredity on disease. H. K. Lewis & Co. Ltd, London
83. LS Penrose 1936 Autosomal mutation and modification in man, with special reference to mental defect Ann Eugen 7 1 16 10.1111/j.1469-1809.1936.tb02124.x
84. LS Penrose 1946 Social aspects of psychiatry; the importance of statistics J Ment Sci 92 389 713 718 20279302 1:STN:280:DyaH2s%2FktVyitA%3D%3D
85. LS Penrose 1948 The problem of anticipation in pedigrees of dystrophia myotonica Ann Eugen 14 2 125 132 18863976 1:STN:280:DyaH1c%2FgslOhsQ%3D%3D
86. Pick D (1989) Faces of degeneration: a European disorder, c. 1848-1918. Cambridge University Press, Cambridge
87. Pringle P (2008) The murder of Nikolai Vavilov: the story of Stalin's persecution of one of the great scientists of the twentieth century. Simon & Schuster, New York
88. W Reik 1988 Genomic imprinting: a possible mechanism for the parental origin effect in Huntington's chorea J Med Genet 25 12 805 808 2976840 1:STN:280:DyaL1M7nvVGltA%3D%3D 10.1136/jmg.25.12.805
89. BW Richards PE Sylvester C Brooker 1981 Fragile X-linked mental retardation: the Martin-Bell syndrome J Ment Defic Res 25 4 253 256 7328634 (Pubitemid 13004815)
90. RM Ridley CD Frith TJ Crow PM Conneally 1988 Anticipation in Huntington's disease is inherited through the male line but may originate in the female J Med Genet 25 9 589 595 2972838 1:STN:280:DyaL1M%2FjslWjsQ%3D%3D 10.1136/jmg.25.9.589
91. F Rosner 1998 Judaism, genetic screening and genetic therapy Mt Sinai J Med 65 5-6 406 413 9844372 1:STN:280:DyaK1M%2FmtVelsA%3D%3D (Pubitemid 128472500)
92. Rüdin E (1916) Studien über Vererbung und Entstehung geistiger Störungen, I: Zur Vererbung und Neuentstehung der Dementia praecox. Julius Springer, Berlin
93. E Rüdin 1923 Über Vererbung geistiger Störungen Z Gesamte Neurol Psych 81 459 496 10.1007/BF02869036
94. AR Rushton 2000 Nettleship, Pearson and Bateson: the biometric-Mendelian debate in a medical context J Hist Med Allied Sci 55 2 134 157 10820966 1:STN:280:DC%2BD3c3otVKjsw%3D%3D 10.1093/jhmas/55.2.134
95. Sapp J (1987) Beyond the gene: cytoplasmic inheritance and the struggle for authority in genetics. Oxford University Press, New York
96. SL Sherman NE Morton PA Jacobs G Turner 1984 The marker (X) syndrome: a cytogenetic and genetic analysis Ann Hum Genet 48 1 21 37 6712153 1:STN:280:DyaL2c7nslWqug%3D%3D 10.1111/j.1469-1809.1984.tb00830.x (Pubitemid 14004938)
97. SL Sherman PA Jacobs NE Morton U Froster-Iskenius PN Howard-Peebles KB Nielsen MW Partington GR Sutherland G Turner M Watson 1985 Further segregation analysis of the fragile X syndrome with special reference to transmitting males Hum Genet 69 4 289 299 3838733 1:STN:280:DyaL2M7otFWqtA%3D%3D 10.1007/BF00291644 (Pubitemid 15102247)
98. JW Sherrill 1921 The diagnosis of latent incipient diabetes JAMA 77 23 1779 1785
99. Soloway RA (1995) Demography and degeneration: eugenics and the declining birthrate in twentieth-century Britain. University of North Carolina Press, Chapel Hill
100. P Steinbach 1986 Mental impairment in Martin-Bell syndrome is probably determined by interaction of several genes: simple explanation of phenotypic differences between unaffected and affected males with the same X chromosome Hum Genet 72 3 248 252 3957348 1:STN:280:DyaL287ms1Cquw%3D%3D 10.1007/BF00291888 (Pubitemid 16128862)
101. GR Sutherland EA Haan E Kremer M Lynch M Pritchard S Yu RI Richards 1991 Hereditary unstable DNA: a new explanation for some old genetic questions? Lancet 338 8762 289 292 1677119 1:STN:280:DyaK3MzgsVajtQ%3D%3D 10.1016/0140-6736(91)90426-P
102. The Huntington's Disease Collaborative Research Group 1993 A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes Cell 72 6 971 983 10.1016/0092-8674(93)90585-E (Pubitemid 23110238)
103. AJ Verkerk M Pieretti JS Sutcliffe YH Fu DP Kuhl A Pizzuti O Reiner S Richards MF Victoria FP Zhang, et al. 1991 Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome Cell 65 5 905 914 1710175 1:CAS:528:DyaK38Xht1ahur4%3D 10.1016/0092-8674(91)90397-H (Pubitemid 121001321)
104. JC Waller 2001 Ideas of heredity, reproduction and eugenics in Britain, 1800-1875 Stud Hist Phil Biol Biomed Sci 32 3 457 489 (Pubitemid 33630979)
105. JC Waller 2002 'The illusion of an explanation': the concept of hereditary disease, 1770-1870 J Hist Med Allied Sci 57 4 410 448 15182018 10.1093/jhmas/57.4.410 (Pubitemid 41319456)
106. ST Warren F Zhang GR Licameli JF Peters 1987 The fragile X site in somatic cell hybrids: an approach for molecular cloning of fragile sites Science 237 4813 420 423 3603029 1:CAS:528:DyaL2sXlt1yhtL0%3D 10.1126/science.3603029
107. S Yu M Pritchard E Kremer M Lynch J Nancarrow E Baker K Holman J Mulley S Warren D Schlessinger A Et 1991 Fragile X genotype characterized by an unstable region of DNA Science 252 5009 1179 1181 1:CAS:528:DyaK3MXks1Gru7s%3D 10.1126/science.252.5009.1179 (Pubitemid 21917032)