Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18
| Affiliation auteurs | !!!! Error affiliation !!!! |
| Titre | Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18 |
| Type de publication | Journal Article |
| Year of Publication | 2021 |
| Auteurs | Hadouiri N, Thomas Q, Darmency V, Dulieu V, De Rougemont M-GMourot, Bruel A-L, Duffourd Y, Lecoquierre F, Colomb B, Perez-Martin S, Ornetti P, Blanchard O, Sorlin A, Philippe C, Faivre L, Vitobello A, Thauvin-Robinet C |
| Journal | CLINICAL GENETICS |
| Volume | 100 |
| Pagination | 643-644 |
| Date Published | NOV |
| Type of Article | Letter |
| ISSN | 0009-9163 |
| DOI | 10.1111/cge.14045 |