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- https://bio.libretexts.org/Courses/Community_College_of_Vermont/Human_Biology_(Gabor_Gyurkovics)/16%3A_Inheritance_and_Biotechnology/16.06%3A_Genetic_DisordersGenetic disorders are diseases, syndromes, or other abnormal conditions that are caused by mutations in one or more genes or by chromosomal alterations. Genetic disorders are typically present at birt...Genetic disorders are diseases, syndromes, or other abnormal conditions that are caused by mutations in one or more genes or by chromosomal alterations. Genetic disorders are typically present at birth, but they should not be confused with congenital disorders, which are any disorders, regardless of cause, that are present at birth. Some congenital disorders are not caused by genetic mutations or chromosomal alterations and are caused by problems during embryonic or fetal development.
- https://bio.libretexts.org/Bookshelves/Introductory_and_General_Biology/Principles_of_Biology/02%3A_Chapter_2/14%3A_Mutations/14.03%3A_Introduction_to_Genetic_DisordersBy changing a gene’s instructions for making a protein, a mutation can cause the protein to malfunction or to be missing entirely. When a mutation alters a protein that plays a critical role in the bo...By changing a gene’s instructions for making a protein, a mutation can cause the protein to malfunction or to be missing entirely. When a mutation alters a protein that plays a critical role in the body, it can disrupt normal development or cause a medical condition. For example, when people say that someone has “the cystic fibrosis gene,” they are usually referring to a mutated version of the CFTR gene, which causes the disease.
- https://bio.libretexts.org/Bookshelves/Introductory_and_General_Biology/Biology_(Kimball)/10%3A_Mutation/10.01%3A_Mutations_-_Causes_and_SignificanceThis page discusses DNA mutations in living cells, their types (point mutations, indels, etc.), and diseases associated with them, like sickle cell anemia. It highlights the role of mutations in evolu...This page discusses DNA mutations in living cells, their types (point mutations, indels, etc.), and diseases associated with them, like sickle cell anemia. It highlights the role of mutations in evolution, gene duplication, and translocations, along with their rarity and varying rates across species. Specifically, C. elegans has a mutation rate of approximately 2.1 x 10^-8 per base pair per generation, with males contributing more due to mitotic divisions.
- https://bio.libretexts.org/Bookshelves/Introductory_and_General_Biology/Biology_(Kimball)/11%3A_Genomics/11.09%3A_Genetic_Screening_for_PhenylketonuriaThis page discusses Phenylketonuria (PKU), a genetic disorder resulting from defective genes affecting phenylalanine hydroxylase, leading to harmful phenylalanine buildup. Early diagnosis through bloo...This page discusses Phenylketonuria (PKU), a genetic disorder resulting from defective genes affecting phenylalanine hydroxylase, leading to harmful phenylalanine buildup. Early diagnosis through blood tests is crucial, and genetic screening can assess parental transmission risk. Despite available treatments, testing can be complicated by false negatives. PKU is a recessive trait, but the phenylalanine tolerance test complicates its dominance classification.
- https://bio.libretexts.org/Courses/Butte_College/BC%3A_BIOL_2_-_Introduction_to_Human_Biology_(Grewal)/Text/08%3A_Inheritance/8.6%3A_Genetic_DisordersGenetic disorders are diseases, syndromes, or other abnormal conditions that are caused by mutations in one or more genes or by chromosomal alterations.
- https://bio.libretexts.org/Courses/Minnesota_State_Community_and_Technical_College/Biology_of_Human_Concerns_(Daniels)/12%3A_Inheritance/12.06%3A_Genetic_DisordersGenetic disorders are diseases, syndromes, or other abnormal conditions that are caused by mutations in one or more genes or by chromosomal alterations. Genetic disorders are typically present at birt...Genetic disorders are diseases, syndromes, or other abnormal conditions that are caused by mutations in one or more genes or by chromosomal alterations. Genetic disorders are typically present at birth, but they should not be confused with congenital disorders, which are any disorders, regardless of cause, that are present at birth. Some congenital disorders are not caused by genetic mutations or chromosomal alterations and are caused by problems during embryonic or fetal development.
- https://bio.libretexts.org/Bookshelves/Human_Biology/Human_Biology_(Wakim_and_Grewal)/08%3A_Inheritance/8.6%3A_Genetic_DisordersGenetic disorders are diseases, syndromes, or other abnormal conditions that are caused by mutations in one or more genes or by chromosomal alterations. Genetic disorders are typically present at birt...Genetic disorders are diseases, syndromes, or other abnormal conditions that are caused by mutations in one or more genes or by chromosomal alterations. Genetic disorders are typically present at birth, but they should not be confused with congenital disorders, which are any disorders, regardless of cause, that are present at birth. Some congenital disorders are not caused by genetic mutations or chromosomal alterations and are caused by problems during embryonic or fetal development.
- https://bio.libretexts.org/Workbench/Principles_of_the_Human_Body/10%3A_Inheritance/10.6%3A_Genetic_DisordersGenetic disorders are diseases, syndromes, or other abnormal conditions that are caused by mutations in one or more genes or by chromosomal alterations. Genetic disorders are typically present at birt...Genetic disorders are diseases, syndromes, or other abnormal conditions that are caused by mutations in one or more genes or by chromosomal alterations. Genetic disorders are typically present at birth, but they should not be confused with congenital disorders, which are any disorders, regardless of cause, that are present at birth. Some congenital disorders are not caused by genetic mutations or chromosomal alterations and are caused by problems during embryonic or fetal development.
- https://bio.libretexts.org/Courses/Canada_College/Human_Biology_Biol_011_Textbook/08%3A_Inheritance/8.06%3A_Genetic_DisordersGenetic disorders are diseases, syndromes, or other abnormal conditions that are caused by mutations in one or more genes or by chromosomal alterations. Genetic disorders are typically present at birt...Genetic disorders are diseases, syndromes, or other abnormal conditions that are caused by mutations in one or more genes or by chromosomal alterations. Genetic disorders are typically present at birth, but they should not be confused with congenital disorders, which are any disorders, regardless of cause, that are present at birth. Some congenital disorders are not caused by genetic mutations or chromosomal alterations and are caused by problems during embryonic or fetal development.
