Genotype-Phenotype Correlation in Probands

The data considered for the genotype-phenotype correlation in the probands were: red blood cell count (RBC), Hb, MCV, MCH, MCHC, red cell distribution width (RDW-SD), red cell distribution width—coefficient of variation (RDW-CV), hematocrit (HCT), Ret%, T-Bil, and D-Bil. Genotypes were subdivided by different types of mutations (non-sense, frameshift, splicing, and missense) and the location of the mutations (membrane binding domain, spectrin binding domain, and regulatory domain).

Free full text: Click here

Kang M., Li H., Zhu J., Zhu L., Hong Y, & Fang Y. (2023). Clinical manifestations of 17 Chinese children with hereditary spherocytosis caused by novel mutations of the ANK1 gene and phenotypic analysis. Frontiers in Genetics, 14, 1088985.

Publication 2023

Frameshift Genotypes Membrane Mutations Red blood cell count Red cell distribution width Spectrin

Corresponding Organization : Nanjing Medical University

Top 5 similar protocols

Variable analysis

independent variables

Genotypes
Types of mutations (non-sense, frameshift, splicing, and missense)
Location of the mutations (membrane binding domain, spectrin binding domain, and regulatory domain)

dependent variables

Red blood cell count (RBC)
Red cell distribution width (RDW-SD)
Red cell distribution width—coefficient of variation (RDW-CV)
Hematocrit (HCT)
T-Bil
D-Bil

control variables

Control variables not explicitly mentioned.

Annotations

Based on most similar protocols

Etiam vel ipsum. Morbi facilisis vestibulum nisl. Praesent cursus laoreet felis. Integer adipiscing pretium orci. Nulla facilisi. Quisque posuere bibendum purus. Nulla quam mauris, cursus eget, convallis ac, molestie non, enim. Aliquam congue. Quisque sagittis nonummy sapien. Proin molestie sem vitae urna. Maecenas lorem.

As authors may omit details in methods from publication, our AI will look for missing critical information across the 5 most similar protocols.

About PubCompare

Our mission is to provide scientists with the largest repository of trustworthy protocols and intelligent analytical tools, thereby offering them extensive information to design robust protocols aimed at minimizing the risk of failures.

We believe that the most crucial aspect is to grant scientists access to a wide range of reliable sources and new useful tools that surpass human capabilities.

However, we trust in allowing scientists to determine how to construct their own protocols based on this information, as they are the experts in their field.

Ready to get started?

Revolutionizing how scientists
search and build protocols!