Results 121 to 130 of about 151,372 (221)

Saccharomyces cerevisiae pms2 Mutations Are Alleles of MLH1, and pms2-2 Corresponds to a Hereditary Nonpolyposis Colorectal Carcinoma-Causing Missense Mutation [PDF]

, 1996
Ayyamperumal Jeyaprakash, Ruchira Das Gupta, Richard D. Kolodner   +2 more
openalex   +1 more source

Missense-Mutation [PDF]

, 2018
openaire   +1 more source

Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX

, 1993
P. M. Green, V. E. Mitchell, Adam P. McGraw, E. Goldman, F. Giannelli   +4 more
openalex   +1 more source

The impact of missense mutations on human behavior

Brain Research Bulletin, 2012
Mohajeri, M. Hasan, Giese, K. Peter
openaire   +4 more sources

Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene

Stem Cell Research
X-linkded Ohdo syndrome is characterized mainly by intellectual disability, delays in reaching development, feeding difficulties, thyroid dysfunction, and dysmorphic appearance with blepharophimosis, immobile mask-like face and bulbous nose. The X-linked
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj  

Editorial: Structural understanding of the functional consequences of missense mutation. [PDF]

Front Genet, 2023
Tian J, McFarland CD, Woodard J.
europepmc   +1 more source

Oto‐spondylo‐megaepiphyseal dysplasia (OSMED): Clinical description of three patients homozygous for a missense mutation in the COL11A2 gene [PDF]

, 1997
Maurice A. M. Van Steensel, Pieter Buma, M.C. de Waal Malefijt, F.H.J. van den Hoogen, Han G. Brunner   +4 more
openalex   +1 more source

Clinical phenotype and genotype analysis on a family of Becker muscular dystrophy caused by a novel missense mutation of DMD gene

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To summarize the phenotype and genotype of a family of Becker muscular dystrophy (BMD) caused by a novel missense mutation of DMD gene. Methods and Results Clinical data of one BMD proband and the family members were collected.
Yun-qing GAO, Li-yu OU, Ya-qin LI, Jing LI, Jin-fu LIN, Ruo-jie HE, Huan LI, Yu-ling ZHU, Cheng ZHANG   +8 more
doaj  

A missense mutation in the KCNE4 gene is not predictive of equine anhidrosis. [PDF]

Anim Genet
van der Graaf L, Leigh W, Szmatoła T, Roberts K, Ryan S, Brown B, Van Buren S, Finno CJ, Petersen JL.   +8 more
europepmc   +1 more source

Missense mutation (Ser654Leu) in the ITGA8 gene associated with renal hypodysplasia: A case report. [PDF]

Biomed Rep
Singh KG, Moorthy A.
europepmc   +1 more source