Confirmation of the type 2 myotonic dystrophy (CCTG)(n) expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: A single shared haplotype indicates an ancestral founder effect

LL Bachinski; Bjarne Udd; G Meola; [Tuntematon] Sansone; G Bassez; B Eymard; CA Thornton; RT Moxley; PS Harper; MT Rogers; K Jurkat-Rott; F Lehmann-Horn; T Wieser; J Gamez; C Navarro; A Bottani; A Kohler; MD Shriver; Riitta Sallinen; M Wessman; SX Zhang; FA Wright; R Krahe

Confirmation of the type 2 myotonic dystrophy (CCTG)(n) expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: A single shared haplotype indicates an ancestral founder effect

LL Bachinski, Bjarne Udd, G Meola, [Tuntematon] Sansone, G Bassez, B Eymard, CA Thornton, RT Moxley, PS Harper, MT Rogers, K Jurkat-Rott, F Lehmann-Horn, T Wieser, J Gamez, C Navarro, A Bottani, A Kohler, MD Shriver, Riitta Sallinen, M WessmanSX Zhang, FA Wright, R Krahe

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Lehti	American Journal of Human Genetics
Vuosikerta	73
Numero	4
Sivut	835-848
Sivumäärä	14
ISSN	0002-9297
Tila	Julkaistu - lokak. 2003
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

3111 Biolääketieteet

Siteeraa tätä

Bachinski, LL., Udd, B., Meola, G., Sansone, T., Bassez, G., Eymard, B., Thornton, CA., Moxley, RT., Harper, PS., Rogers, MT., Jurkat-Rott, K., Lehmann-Horn, F., Wieser, T., Gamez, J., Navarro, C., Bottani, A., Kohler, A., Shriver, MD., Sallinen, R., ... Krahe, R. (2003). Confirmation of the type 2 myotonic dystrophy (CCTG)(n) expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: A single shared haplotype indicates an ancestral founder effect. American Journal of Human Genetics, 73(4), 835-848.

Bachinski, LL ; Udd, Bjarne ; Meola, G et al. / Confirmation of the type 2 myotonic dystrophy (CCTG)(n) expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins : A single shared haplotype indicates an ancestral founder effect. Julkaisussa: American Journal of Human Genetics. 2003 ; Vuosikerta 73, Nro 4. Sivut 835-848.

@article{87e9bbdce7e3401aa95f6bce57b11323,

title = "Confirmation of the type 2 myotonic dystrophy (CCTG)(n) expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: A single shared haplotype indicates an ancestral founder effect",

keywords = "LINKAGE DISEQUILIBRIUM, MYOPATHY PROMM, DELETION POLYMORPHISM, JAPANESE POPULATION, TRANSGENIC MICE, CTG REPEATS, FAMILY, POLYMERASE, PHENOTYPE, GENE, 3111 Biomedicine",

author = "LL Bachinski and Bjarne Udd and G Meola and [Tuntematon] Sansone and G Bassez and B Eymard and CA Thornton and RT Moxley and PS Harper and MT Rogers and K Jurkat-Rott and F Lehmann-Horn and T Wieser and J Gamez and C Navarro and A Bottani and A Kohler and MD Shriver and Riitta Sallinen and M Wessman and SX Zhang and FA Wright and R Krahe",

year = "2003",

month = oct,

language = "English",

volume = "73",

pages = "835--848",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "4",

}

Bachinski, LL, Udd, B, Meola, G, Sansone, T, Bassez, G, Eymard, B, Thornton, CA, Moxley, RT, Harper, PS, Rogers, MT, Jurkat-Rott, K, Lehmann-Horn, F, Wieser, T, Gamez, J, Navarro, C, Bottani, A, Kohler, A, Shriver, MD, Sallinen, R, Wessman, M, Zhang, SX, Wright, FA & Krahe, R 2003, 'Confirmation of the type 2 myotonic dystrophy (CCTG)(n) expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: A single shared haplotype indicates an ancestral founder effect', American Journal of Human Genetics, Vuosikerta 73, Nro 4, Sivut 835-848.

Confirmation of the type 2 myotonic dystrophy (CCTG)(n) expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: A single shared haplotype indicates an ancestral founder effect. / Bachinski, LL; Udd, Bjarne; Meola, G et al.
julkaisussa: American Journal of Human Genetics, Vuosikerta 73, Nro 4, 10.2003, s. 835-848.

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

TY - JOUR

T1 - Confirmation of the type 2 myotonic dystrophy (CCTG)(n) expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins

T2 - A single shared haplotype indicates an ancestral founder effect

AU - Bachinski, LL

AU - Udd, Bjarne

AU - Meola, G

AU - Sansone, [Tuntematon]

AU - Bassez, G

AU - Eymard, B

AU - Thornton, CA

AU - Moxley, RT

AU - Harper, PS

AU - Rogers, MT

AU - Jurkat-Rott, K

AU - Lehmann-Horn, F

AU - Wieser, T

AU - Gamez, J

AU - Navarro, C

AU - Bottani, A

AU - Kohler, A

AU - Shriver, MD

AU - Sallinen, Riitta

AU - Wessman, M

AU - Zhang, SX

AU - Wright, FA

AU - Krahe, R

PY - 2003/10

Y1 - 2003/10

KW - LINKAGE DISEQUILIBRIUM

KW - MYOPATHY PROMM

KW - DELETION POLYMORPHISM

KW - JAPANESE POPULATION

KW - TRANSGENIC MICE

KW - CTG REPEATS

KW - FAMILY

KW - POLYMERASE

KW - PHENOTYPE

KW - GENE

KW - 3111 Biomedicine

M3 - Article

SN - 0002-9297

VL - 73

SP - 835

EP - 848

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 4

ER -

Bachinski LL, Udd B, Meola G, Sansone T, Bassez G, Eymard B et al. Confirmation of the type 2 myotonic dystrophy (CCTG)(n) expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: A single shared haplotype indicates an ancestral founder effect. American Journal of Human Genetics. 2003 loka;73(4):835-848.