Papers

With Tag: Missense

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Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art

Molecular Genetics and Metabolism | 2003 | 10.1016/S1096-7192(02)00229-9

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Citrate infusion test in the diagnosis of hypocalcemia due to a mutation in the calcium-sensing receptor gene.

European Journal of Internal Medicine | 2002 | 10.1016/S0953-6205(02)00034-1

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Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene.

Blood Coagulation & Fibrinolysis | 2008 | 10.1097/MBC.0b013e32830ef8f9

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A Two-Hit Model for Development of Multiple Endocrine Neoplasia Type 2B by RET Mutations

Biochemical and Biophysical Research Communications | 2000 | 10.1006/bbrc.2000.2227

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Evolutionary conservation and mutational spectrum of BMPR2 gene

James A Knowles, Jane H Morse, Wai K P Wong
Gene | 2006 | 10.1016/j.gene.2005.10.025

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Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of PDE11A Sequence Variants That Are Frequent in the Population

Cancer Research | 2006 | 10.1158/0008-5472.CAN-06-2914

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A Dutch family with moderately severe hemophilia B (factor IXHeerde) has a missense mutation identical to that of factor IX London 2.

E Briet, P H Reitsma, R M Bertina, Poort
Nucleic Acids Research | 1989 | 10.1093/nar/17.9.3614

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The putative high-affinity nitrate transporter NRT2.1 represses lateral root initiation in response to nutritional cues

Sabrina Oliva, Jocelyn E Malamy, H Rao, Anne Krapp, Daniel Y Little, Francoise Danielvedele
Proceedings of the National Academy of Sciences of the United States of America | 2005 | 10.1073/pnas.0504219102

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Mutational analysis of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease

Journal of Pediatric Surgery | 1999 | 10.1016/S0022-3468(99)90128-8

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Genetic and expression analysis of the KCNRG gene in hepatocellular carcinomas

Experimental and Molecular Medicine | 2006 | 10.1038/emm.2006.30

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A natural CCL5/RANTES variant antagonist for CCR1 and CCR3.

Immunogenetics | 2006 | 10.1007/s00251-006-0133-2

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Omani‐type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3

Stefan Mundlos, Seval Turkmen, Ahmet Celebi, Beyhan Tuysuz, Kazuyuki Sugahara, Shuji Mizumoto
Clinical Genetics | 2009 | 10.1111/j.1399-0004.2009.01167.x

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The Spectrum of Somatic Mutations in the PIG-A Gene in Paroxysmal Nocturnal Hemoglobinuria Includes Large Deletions and Small Duplications

Lucio Luzzatto, Monica Bessler, Hugo R Castromalaspina, Khedoudja Nafa, Suresh C Jhanwar
Blood Cells Molecules and Diseases | 1998 | 10.1006/bcmd.1998.0203

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Disturbance in the HIF-1alpha pathway associated with erythrocytosis: further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene.

Kamran Moradkhani, Marc Lopez, Maha Alsheikh, Claude Prehu, Henri Wajcman
Blood Cells Molecules and Diseases | 2008 | 10.1016/j.bcmd.2007.07.017

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Methylenetetrahydrofolate reductase C677T polymorphism and Factor V Leiden variant in Mexican women with preeclampsia/eclampsia

Mario Salazarparamo, J A Tlacuiloparra, Esperanza Martinezabundis, M Gonzalezortiz, J P Mena, Jaime Mas Oliva, Molly Moran, V Machorro, I P Davalos, Jose Sanchezcorona, L E Figuera, L Sandoval, S E Floresmartinez
Blood Cells Molecules and Diseases | 2005 | 10.1016/j.bcmd.2005.03.008

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Sequence analysis of P21-activated kinase 3 (PAK3) in chronic schizophrenia with cognitive impairment

Schizophrenia Research | 2008 | 10.1016/j.schres.2008.08.021

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A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers

American Journal of Human Genetics | 1998 | 10.1086/302069

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N-terminal RAG1 frameshift mutations in Omenn's syndrome: Internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains

C Gomez, Cristina Sobacchi, Paolo Vezzoni, Sandro Santagata, Srdjan Pasic, Mario Abinun, Fabio Bozzi, Patricia Cortes, Anna Villa
Proceedings of the National Academy of Sciences of the United States of America | 2000 | 10.1073/pnas.97.26.14572

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Cardiac Alpha-Myosin ( MYH6 ) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects

PLOS ONE | 2011 | 10.1371/journal.pone.0028872

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Clinical and Electrophysiological Characteristics of Brugada Syndrome Caused by a Missense Mutation in the S5‐Pore Site of SCN5A

Journal of Cardiovascular Electrophysiology | 2005 | 10.1046/j.1540-8167.2005.40606.x

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