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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Counseling and CAPN3[original query]
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Human mutation 2004 Jul 24 (1): 52-62.
Fanin M, Fulizio L, Nascimbeni A C, Spinazzi M, Piluso G, Ventriglia V M, Ruzza G, Siciliano G, Trevisan C P, Politano L, Nigro V, Angelini
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.
American journal of medical genetics. Part A 2004 Mar 125A (2): 152-6.
Canki-Klain Nina, Milic Astrid, Kovac Biserka, Trlaja Anuska, Grgicevic Damir, Zurak Niko, Fardeau Michel, Leturcq France, Kaplan Jean-Claude, Urtizberea J Andoni, Politano Luisa, Piluso Giulio, Feingold Jos
Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
Journal of neuromuscular diseases 2020 Dec .
Pathak Pankaj, Sharma Mehar Chand, Jha Pankaj, Sarkar Chitra, Faruq Mohammed, Jha Prerana, Suri Vaishali, Bhatia Rohit, Singh Sumit, Gulati Sheffali, Husain Mohamm
Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect.
Orphanet journal of rare diseases 2020 1 15 (1): 14.
Mojbafan Marzieh, Bahmani Reza, Bagheri Samira Dabbagh, Sharifi Zohreh, Zeinali Siro
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