Results 181 to 190 of about 151,372 (221)

A missense mutation in human INSC causes peripheral neuropathy. [PDF]

EMBO Mol Med
Yeh JY, Chao HC, Hong CL, Hung YC, Tzou FY, Hsiao CT, Li JL, Chen WJ, Chou CT, Tsai YS, Liao YC, Lin YC, Lin S, Huang SY, Kennerson M, Lee YC, Chan CC.   +16 more
europepmc   +1 more source

A novel missense mutation of CCDC34 causes male infertility with oligoasthenoteratozoospermia in a consanguineous Pakistani family. [PDF]

Asian J Androl
Ahmad N, Yang ML, Zeb A, Zhou JT, Zubair M, Abbas T, Jiang XH, Zhang YW, Zhang H, Shah W, Shi QH.   +10 more
europepmc   +1 more source

PON-Tm: A Sequence-Based Method for Prediction of Missense Mutation Effects on Protein Thermal Stability Changes. [PDF]

Int J Mol Sci
Kuang J, Zhao Z, Yang Y, Yan W.
europepmc   +1 more source

Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation inCPS1

, 1998
Ulrich Finckh, Alfried Kohlschütter, Hansjörg Schäfer, Katja Sperhake, Jean‐Pierre Colombo, Andreas Gal   +5 more
openalex   +1 more source

A Novel De Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis. [PDF]

Int J Mol Sci
Bernard E, Cluse F, Bohic A, Hermier M, Raoul C, Leblanc P, Guissart C.   +6 more
europepmc   +1 more source

Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals

, 1998
Stefan Ries, Christa Büchler, Gisela Schindler, Charalampos Aslanidis, Detlev Ameis, Christoph Gasché, Nikola Jung, Axel Schambach, Petra Fehringer, Marie T. Vanier, Dominique C. Belli, Heiner Greten, Gerd Schmitz   +12 more
openalex   +1 more source

A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35. [PDF]

J Biol Chem
Aguila A, Salah S, Kulasekaran G, Shweiki M, Shaul-Lotan N, Mor-Shaked H, Daana M, Harel T, McPherson PS.   +8 more
europepmc   +1 more source

Extragenic suppression of motA missense mutations of Escherichia coli

, 1996
Anthony G. Garza, Philip A. Bronstein, Patricia A. Valdez, Larry W. Harris-Haller, Michael D. Manson   +4 more
openalex   +1 more source

Genetic evidence for predisposition to acute leukemias due to a missense mutation (p.Ser518Arg) in ZAP70 kinase: a case-control study. [PDF]

BMC Med Genomics
Khashei Varnamkhasti K, Khashei Varnamkhasti S, Shahrouzian A, Rahimzadeh M, Naeimi L, Naeimi B, Naeimi S.   +6 more
europepmc   +1 more source

Missense mutation of angiotensin converting enzyme gene in an Alzheimer's disease patient: a case report. [PDF]

Front Neurosci
He M, Zhang F, Qi J, Zhang W.
europepmc   +1 more source