Erythropoietin (EPO), a glycoprotein hormone, is the major physiological regulator of
erythrocyte production in mammals. A cDNA clone containing the entire human EPO-coding …

Split hand/split foot (SHFD) is a human developmental defect characterized by missing
digits, fusion of remaining digits, and a deep median cleft in the hands and feet. Cytogenetic …

Cystic fibrosis (CF) is the most common severe recessive genetic disorder in the Caucasian
population. In 1938, DH Anderson provided the first comprehensive description of the …

β-Lactam antibiotics provide the cornerstone of treatment for respiratory exacerbations in
patients with cystic fibrosis. Unfortunately, approximately 20% of patients develop multiple …

As a single comprehensive reference source and full-color atlas, this book covers a wide
range of pathology. Normal anatomy as well as developmental abnormalities are detailed. A …

Patients with cystic fibrosis (CF) generally suffer from chronic obstructive lung disease,
pancreatic insufficiency (PI), and a number of other exocrine malfunctions. Approximately …

Split hand/split foot (ectrodactyly; SHSF) Is a human developmental malformation
characterized by missing digits and claw-like extremities. An autosomal dominant form of …

▪ Abstract The availability of complete genome sequences and the wealth of large-scale
biological data sets now provide an unprecedented opportunity to elucidate the genetic …

Human serum contains EDTA‐sensitive (Ca++‐dependent) and EDTA‐stable (albumin)
paraoxonases which hydrolyse paraoxon, 0, 0‐diethyl, 0–4‐nitrophenyl phosphate. In …

Prenatal diagnosis of cystic fibrosis was performed in 200 pregnancies with a 1-in-4 risk,
and was based on significant modifications in amniotic fluid taken at 17, 18, 19 weeks of …