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Is Part Of Human mutation. Volume 39:Issue 4(2018)

1. Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules. Issue 4 (16th January 2018)

Authors:
Baatallah, Nesrine; Bitam, Sara; Martin, Natacha; Servel, Nathalie; Costes, Bruno; Mekki, Chadia; Chevalier, Benoit; Pranke, Iwona; Simonin, Juliette; Girodon, Emmanuelle; Hoffmann, Brice; Mornon, Jean‐Paul; Callebaut, Isabelle; Sermet‐Gaudelus, Isabelle; Fanen, Pascale; Edelman, Aleksander; Hinz...
Journal:
Human mutation
Issue:
Volume 39:Issue 4(2018)
Page Start:
506
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease. Issue 4 (7th February 2018)

Authors:
Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska‐Lightowlers, Zofia M.A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Pe...
Journal:
Human mutation
Issue:
Volume 39:Issue 4(2018)
Page Start:
563
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease. Issue 4 (7th February 2018)

Authors:
Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska‐Lightowlers, Zofia M.A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Pe...
Journal:
Human mutation
Issue:
Volume 39:Issue 4(2018)
Page Start:
563
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Loss‐of‐function mutations in ISCA2 disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion. Issue 4 (22nd January 2018)

Authors:
Alaimo, Joseph T.; Besse, Arnaud; Alston, Charlotte L.; Pang, Ki; Appadurai, Vivek; Samanta, Monisha; Smpokou, Patroula; McFarland, Robert; Taylor, Robert W.; Bonnen, Penelope E.
Journal:
Human mutation
Issue:
Volume 39:Issue 4(2018)
Page Start:
537
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

9. MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. Issue 4 (13th January 2018)

Authors:
El‐Hattab, Ayman W.; Wang, Julia; Dai, Hongzheng; Almannai, Mohammed; Staufner, Christian; Alfadhel, Majid; Gambello, Michael J.; Prasun, Pankaj; Raza, Saleem; Lyons, Hernando J.; Afqi, Manal; Saleh, Mohammed A. M.; Faqeih, Eissa A.; Alzaidan, Hamad I.; Alshenqiti, Abduljabbar; Flore, Leigh Anne;...
Journal:
Human mutation
Issue:
Volume 39:Issue 4(2018)
Page Start:
461
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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