protein s deficiency/l cistein

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Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden.

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Prijava / prijava

The molecular basis of type I or III Protein S deficiency has been investigated in three kindred also showing independent inheritance of factor V (FV) Leiden. A T to C transition in codon 570 (Met-->Thr) was identified in the propositi and shown to segregate with protein S deficiency in all but one

[Pedigree survey in a family with hereditary protein S deficiency].

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Objective: To observe the clinical feature of familiar hereditary protein S deficiency(HPSD), and to explore the related gene mutations. Methods: A total of seven family members were enrolled in this study and examined during the June to September 2015. Medical histories of the families were

Genetic predisposition of white matter infarction with protein S deficiency and R355C mutation.

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BACKGROUND The association between protein S deficiency (PSD) and ischemic stroke is controversial and warrants further investigation. METHODS We conducted a genotype and MRI correlation study in a Chinese family in which hereditary PSD cosegregated with premature ischemic strokes. Six out of 11

[Recurrent deep vein thrombosis caused by heterozygous missense mutation of the protein S gene: genetic analysis of a case].

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OBJECTIVE To analyze the molecular pathogenesis of protein S deficiency in an adolescent case of recurrent deep vein thrombosis (DVT). METHODS Blood samples from the patient and his family members were collected for detection of the coagulation parameters by one-step clotting method, and the protein

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