arachnodactyly/lysine

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NakalaMajaribio ya klinikiHati miliki

Chagua aina ya aina

2 matokeo

Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Neonatal Marfan syndrome (nMFS) is considered to be on the most severe end of the spectrum of type I fibrillinopathies. The common features of nMFS include ascending aortic dilatation, severe mitral and/or tricuspid valve insufficiency, ectopia lentis, arachnodactyly, joint contractures, crumpled

Two rare missense mutations in the fibrillin‑1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

The present report aimed to evaluate the results of screen mutations of the fibrillin (FBN) 1 gene and analyze the symptoms in one Chinese patient clinically diagnosed with Marfan syndrome (MFS). Clinical data were collected and FBN1 gene sequencing was performed. Genomic DNA was extracted from the

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Herbal & Natural Medicine

Hifadhidata kamili ya mimea ya dawa inayoungwa mkono na sayansi

Inafanya kazi katika lugha 55
Uponyaji wa mitishamba unaungwa mkono na sayansi
Kutambua mimea kwa picha
Ramani ya GPS inayoshirikiana
Soma machapisho ya kisayansi yanayohusiana na utafutaji wako
Tafuta mimea ya dawa na athari zao
Panga maslahi yako na fanya tarehe ya utafiti wa habari, majaribio ya kliniki na ruhusu

Andika dalili au ugonjwa na usome juu ya mimea ambayo inaweza kusaidia, chapa mimea na uone magonjwa na dalili ambazo hutumiwa dhidi yake.
* Habari zote zinategemea utafiti wa kisayansi uliochapishwa