Mathematicsematical Physics

Download Achondrogenesis - A Bibliography and Dictionary for by Philip M. Parker PDF

By Philip M. Parker

In March 2001, the nationwide Institutes of future health issued the next caution: "The variety of sites supplying health-related assets grows on a daily basis. Many websites supply necessary details, whereas others could have details that's unreliable or misleading." moreover, end result of the fast elevate in Internet-based details, many hours will be wasted looking, choosing, and printing. because in simple terms the smallest fraction of data facing Achondrogenesis is listed in se's, resembling www.google.com or others, a non-systematic method of web learn will be not just time eating, but additionally incomplete. This e-book was once created for doctors, scholars, and participants of most of the people who are looking to behavior clinical examine utilizing the main complicated instruments to be had and spending the smallest amount of time doing so.

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Author(s): Faivre L, Le Merrer M, Douvier S, Laurent N, Thauvin-Robinet C, Rousseau T, Vereecke I, Sagot P, Delezoide AL, Coucke P, Mortier G. Source: Am J Med Genet A. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=15054848&query_hl=19&itool=pubmed_docsum • Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships. Author(s): Bonaventure J, Cohen-Solal L, Ritvaniemi P, Van Maldergem L, Kadhom N, Delezoide AL, Maroteaux P, Prockop DJ, Ala-Kokko L.

Db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=3920282&query_hl=19&itool=pubmed_docsum • Intracytoplasmic inclusion bodies in the chondrocytes of type I lethal achondrogenesis. Author(s): Yang SS, Heidelberger KP, Bernstein J. Source: Human Pathology. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=186383&query_hl=19&itool=pubmed_docsum • Lethal neonatal dwarfism: a case of achondrogenesis. Author(s): Afzal MK, Choo Keng E. Source: Med J Malaysia. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=7254002&query_hl=19&itool=pubmed_docsum • Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism.

To function correctly, each cell depends on thousands of proteins to do their jobs in the right places at the right times. Sometimes, gene mutations prevent one or more of these proteins from working properly. 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. A condition caused by mutations in one or more genes is called a genetic disorder.

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