SCOPUS 정보 검색 플랫폼

Volumn 60, Issue 6, 1997, Pages 1542-1544

A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy [4]

(6) Guiraud Chaumeil, C a Vincent, M C a Laporte, J a Fardeau, M a Samson, F a Mandel, J L a

a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE (France)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CENTRONUCLEAR MYOPATHY; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; LETTER; MALE; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

EID: 0030908639 PISSN: 00029297 EISSN: None Source Type: Journal
DOI: 10.1016/s0002-9297(07)64249-9 Document Type: Letter

Times cited : (9)

References (6)

1
- 0028969635
- Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600- kb region
- N Dahl LJ Hu M Chery M Fardeau S Gilgenkrantz A Nivelon-Chevallier I Sidaner-Noisette Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600- kb region Am J Hum Genet 56 1995 1108 1115
- (1995) Am J Hum Genet , vol.56 , pp. 1108-1115
- Dahl, N¹ Hu, LJ² Chery, M³ Fardeau, M⁴ Gilgenkrantz, S⁵ Nivelon-Chevallier, A⁶ Sidaner-Noisette, I⁷

2
- 0029883081
- X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers
- LJ Hu J Laporte P Kioschis S Heyberger C Kretz A Poustka JL Mandel X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers Hum Genet 98 1996 a 178 181
- (1996) Hum Genet , vol.98 , pp. 178-181
- Hu, LJ¹ Laporte, J² Kioschis, P³ Heyberger, S⁴ Kretz, C⁵ Poustka, A⁶ Mandel, JL⁷

3
- 0029875653
- Prenatal diagnosis of X-linked myotubular myopathy: strategies using new and tightly linked DNA markers
- LJ Hu J Laporte W Kress N Dahl Prenatal diagnosis of X-linked myotubular myopathy: strategies using new and tightly linked DNA markers Prenat Diagn 16 1996 b 231 237
- (1996) Prenat Diagn , vol.16 , pp. 231-237
- Hu, LJ¹ Laporte, J² Kress, W³ Dahl, N⁴

4
- 9044222886
- A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
- J Laporte LJ Hu C Kretz JL Mandel P Kioschis JF Coy SM Klauck A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast Nat Genet 13 1996 175 182
- (1996) Nat Genet , vol.13 , pp. 175-182
- Laporte, J¹ Hu, LJ² Kretz, C³ Mandel, JL⁴ Kioschis, P⁵ Coy, JF⁶ Klauck, SM⁷

5
- 0029076864
- Genetic linkage heterogeneity in myotubular myopathy
- F Samson L Mesnard M Heimburger A Hanauer M Chevallay JJ Mercadier JF Pelissier Genetic linkage heterogeneity in myotubular myopathy Am J Hum Genet 57 1995 120 126
- (1995) Am J Hum Genet , vol.57 , pp. 120-126
- Samson, F¹ Mesnard, L² Heimburger, M³ Hanauer, A⁴ Chevallay, M⁵ Mercadier, JJ⁶ Pelissier, JF⁷

6
- 0029023971
- The myotubular myopathies:differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies
- C Wallgren-Pettersson A Clarke F Samson M Fardeau V Dubowitz H Moser T Grimm The myotubular myopathies:differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies J Med Genet 32 1995 673 679
- (1995) J Med Genet , vol.32 , pp. 673-679
- Wallgren-Pettersson, C¹ Clarke, A² Samson, F³ Fardeau, M⁴ Dubowitz, V⁵ Moser, H⁶ Grimm, T⁷

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.