| Title |
|
|
|
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I
| |
| Author |
|
|
|
| |
| Abstract |
|
|
| | |
| Language |
|
|
|
English
| |
| Source (journal) |
|
|
|
Clinical genetics. - Copenhagen | |
| Publication |
|
|
|
Copenhagen : 2018
| |
| ISSN |
|
|
|
0009-9163
| |
| Volume/pages |
|
|
|
93:2(2018), p. 255-265
| |
| ISI |
|
|
|
000423373900009
| |
| Full text (Publisher's DOI) |
|
|
| | |
| Full text (publisher's version - intranet only) |
|
|
| | |
|