✦ LIBER ✦

Tyr204Phe and Val34Leu polymorphisms in two Brazilian ethnic groups and in patients with recurrent miscarriages

✍ Scribed by Helena C.L. Barbosa; Egle C.C. Carvalho; Ricardo Barini; Lucia Helena Siqueira; Devanira S.P. Costa; Joyce M. Annichino-Bizzacchi

Book ID: 118443810
Publisher: Elsevier Science
Year: 2004
Tongue: English
Weight: 68 KB
Volume: 82
Category: Article
ISSN: 1556-5653
DOI: 10.1016/j.fertnstert.2004.04.052

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel missense mutations in two patients

Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val)

✍ G. JAYANDHARAN; R. V. SHAJI; S. C. NAIR; M. CHANDY; A. SRIVASTAVA 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 105 KB

Insulin sensitivity in non-diabetic rela

Insulin sensitivity in non-diabetic relatives of patients with non-insulin-dependent diabetes from two ethnic groups

✍ Susan V. Gelding; Ratnam Niththyananthan; Siew-Pheng Chan; Elizabeth Skinner; St 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 734 KB

Analysis of two polymorphisms of the man

Analysis of two polymorphisms of the manganese superoxide dismutase gene (Ile-58Thr and Ala-9Val) in patients with recurrent depressive disorder

✍ Piotr Gałecki; Janusz Śmigielski; Antoni Florkowski; Kinga Bobińska; Tadeusz Pie 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 184 KB

Mutation screening of neurofibromatosis

Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): Five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients

✍ Hartmut Peters; Andrea Lüder; Anja Harder; Markus Schuelke; Sigrid Tinschert 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB 👁 1 views

Neurofibromatosis type 1 is a clinically variable disorder caused mostly by small mutations within the NF1 gene on chromosome 17q11.2. We used Single Strand Conformation Polymorphism (SSCP) and radioactive sequencing to screen NF1 exons 28 and 29 from 118 unrelated patients, diagnosed with NF1 accor