Don't change that (calcium) channel: mutations in the same calcium channel gene can cause multiple distinct phenotypes

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4 Deng et al. (2010) Nature Genetics 42(2):165–169 Mutations in TRPV4 cause Charcot–Marie–Tooth disease type 2C Landouré et al. (2010) Nature Genetics 42(2):170–174 Alterations in the ankyrin domain...

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Bibliographic Details
Published inClinical genetics Vol. 78; no. 2; pp. 134 - 136
Main Author Sawkins, JN
Format Journal Article
LanguageEnglish
Published Oxford, UK Blackwell Publishing Ltd 01.08.2010
Wiley-Blackwell
Subjects
Biological and medical sciences
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genetics of eukaryotes. Biological and molecular evolution
Medical genetics
Medical sciences
Molecular and cellular biology
Human
Phenotype
Calcium ion
Multiple
Gene
Genetics
Ionic channel
Change
Mutation
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Summary:Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4 Deng et al. (2010) Nature Genetics 42(2):165–169 Mutations in TRPV4 cause Charcot–Marie–Tooth disease type 2C Landouré et al. (2010) Nature Genetics 42(2):170–174 Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C Auer‐Grumbach et al. (2010) Nature Genetics 42(2):160–164
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ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2010.01452_2.x