Identification of novel mutations in theMTM1 gene causing severe and mild forms of X-linked myotubular myopathy

Anna Buj-Bello; Valérie Biancalana; Céline Moutou; Jocelyn Laporte; Jean-Louis Mandel

doi:10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O

Journal Articles Human Mutation Year : 1999

Identification of novel mutations in theMTM1 gene causing severe and mild forms of X-linked myotubular myopathy

(1) , , , ,

1

Anna Buj-Bello

Function : Author
PersonId : 1050604
IdHAL : a-buj-bello
ORCID : 0000-0002-1098-3798

Institut de génétique et biologie moléculaire et cellulaire

CV

Valérie Biancalana

Function : Author

Céline Moutou

Function : Author

Jocelyn Laporte

Function : Author
PersonId : 181385
IdHAL : jocelyn-laporte
ORCID : 0000-0001-8256-5862
IdRef : 131835262

Jean-Louis Mandel

Function : Author

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Molecular biology

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https://hal.science/hal-03157883

Submitted on : Wednesday, March 3, 2021-2:58:35 PM

Last modification on : Thursday, April 11, 2024-3:15:58 AM

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hal-03157883 , version 1 (03-03-2021)

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HAL Id : hal-03157883 , version 1
DOI : 10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O

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Anna Buj-Bello, Valérie Biancalana, Céline Moutou, Jocelyn Laporte, Jean-Louis Mandel. Identification of novel mutations in theMTM1 gene causing severe and mild forms of X-linked myotubular myopathy. Human Mutation, 1999, 14 (4), pp.320-325. ⟨10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O⟩. ⟨hal-03157883⟩

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Identification of novel mutations in theMTM1 gene causing severe and mild forms of X-linked myotubular myopathy

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