Results 291 to 300 of about 176,215 (308)

Acid alpha-glucosidase deficiency: Identification and expression of a missense mutation (S529V) in a Japanese adult phenotype

Human Genetics, 1996
Masayuki Sasaki, Frank Martiniuk, N Sakuragawa   +2 more
exaly  

Missense mutation ofTRPS1 in a family of tricho-rhino-phalangeal syndrome type III

American Journal of Medical Genetics Part A, 2002
Yoshihiro Ogawa
exaly  

Missense Mutation

2009
openaire   +1 more source

A missense mutation of the Toll-like receptor 3 gene in a patient with influenza-associated encephalopathy

Clinical Immunology, 2006
Susumu Matsuo, Tatsushi Muta, Koichiro Takeshige   +2 more
exaly  

Mutation, Missense

2001
openaire   +1 more source

Missense mutation Thr309Lys in the coagulation factor XII gene in a Spanish family with hereditary angioedema type III

Allergy: European Journal of Allergy and Clinical Immunology, 2009
E Fernández-Cruz
exaly  

Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene

Hamostaseologie, 2009
Johannes Oldenburg, A Pavlova, Barbara Zieger   +2 more
exaly  

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY

Diabetologia, 2011
Richard Caswell, Andrew T Hattersley, Anna L Gloyn   +2 more
exaly  

A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT syndrome

Human Mutation, 1998
Michiko Furutani, Yoshiyuki Morikawa, Yoshiyuki Furutani   +2 more
exaly  

Identification of a novel missense mutation in angiogenin in a Chinese amyotrophic lateral sclerosis cohort

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 2012
Zhang-Yu Zou, Ming-Sheng Liu, Xiao-Guang Li   +2 more
exaly