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Is Part Of Human mutation. Volume 37:Issue 11(2016)

1. Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. Issue 11 (5th September 2016)

Authors:
Chen, Brenden; Solis‐Villa, Constanza; Hakenberg, Jörg; Qiao, Wanqiong; Srinivasan, Ramakrishnan R.; Yasuda, Makiko; Balwani, Manisha; Doheny, Dana; Peter, Inga; Chen, Rong; Desnick, Robert J.
Journal:
Human mutation
Issue:
Volume 37:Issue 11(2016)
Page Start:
1215
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. Issue 11 (21st August 2016)

Authors:
van der Klift, Heleen M.; Mensenkamp, Arjen R.; Drost, Mark; Bik, Elsa C.; Vos, Yvonne J.; Gille, Hans J.J.P.; Redeker, Bert E.J.W.; Tiersma, Yvonne; Zonneveld, José B.M.; García, Encarna Gómez; Letteboer, Tom G.W.; Olderode‐Berends, Maran J.W.; van Hest, Liselotte P.; van Os, Theo A.; Verhoef, S...
Journal:
Human mutation
Issue:
Volume 37:Issue 11(2016)
Page Start:
1162
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Genotype–Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel. Issue 11 (19th September 2016)

Authors:
Murayama, Takashi; Kurebayashi, Nagomi; Ogawa, Haruo; Yamazawa, Toshiko; Oyamada, Hideto; Suzuki, Junji; Kanemaru, Kazunori; Oguchi, Katsuji; Iino, Masamitsu; Sakurai, Takashi
Journal:
Human mutation
Issue:
Volume 37:Issue 11(2016)
Page Start:
1231
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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