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little syndrome 1
- ... ankles, and elbows.The mutations that cause Bruck syndrome 1 lead to the production of little to no FKBP10 protein. While people with Kuskokwim syndrome have some residual collagen hydroxylation, it is nearly ...
- ... 3, 5, or 6 have the mildest symptoms. Little is known about the signs, symptoms, and severity of types 7, 8, and 9. Hermansky-Pudlak syndrome is a rare disorder in most populations and is estimated to affect 1 in 500,000 to 1,000,000 individuals ...
- Amnesia (Mayo Foundation for Medical Education and Research)Memory/Specifics ... Memory ... Mayo Foundation for Medical Education and Research
- E. coli (Department of Health and Human Services) - PDFE. Coli Infections/Start Here ... E. Coli Infections ... E. Coli Infections/Patient Handouts ... E. Coli Infections ... Department of Health and Human Services ... PDF
- ... It is thought that variants that result in little or no SMC1A protein function cause the more severe signs and ... Tests ...
- ... symptoms.The PRPS1 gene mutations that cause Arts syndrome change single protein building blocks (amino acids) in the PRPP synthetase 1 enzyme. The mutations are believed to result in the production of an unstable enzyme with little or no activity. The lack of functional PRPP ...
- Fragile X Syndrome
(Eunice Kennedy Shriver National Institute of Child Health and Human Development) Fragile X Syndrome/Start Here ... Fragile X Syndrome ... Eunice Kennedy Shriver National Institute of Child Health and Human Development ... From the National Institutes ... - Usher Syndrome/Learn More ... Usher Syndrome ... National Institute on Deafness and Other Communication Disorders ... From the National Institutes of Health ... Usher syndrome ...
- ... of familial cold autoinflammatory syndrome type 2, but little is known about how these ... monarch 1 Monarch1 NACHT, leucine rich repeat and PYD containing ...
- ... The TGFBR1 gene mutations that cause Loeys-Dietz syndrome are present in one copy of the gene in each cell. Most of these mutations change single protein building blocks (amino acids) in TGF-β receptor type 1, resulting in a receptor with little or no function. Although the receptor has severely ...
(Eunice Kennedy Shriver National Institute of Child Health and Human Development) 