Three new neurofibromatosis type 1 (NFl) mutations have been detected and characterized.
Pulsed-field gel and Southern blot analyses reveal the mutations lo be deletions of 190, 40 …

MALIGNANT hyperthermia (MH) is a potentially lethal condition in which sustained muscle
contracture, with attendant hypercatabolic reactions and elevation in body temperature, are …

Neurofibromatosis type 1 (NF1) or von Recklinghausen neurofibomatosis, is a common
heritable neurocutaneous disorder. This disorder appears to affect all races, with a …

Loss of constitutional heterozygosity is a common molecular feature of cancers in which
inactivation of one or more tumor suppressor genes is thought to contribute to …

A female patient is described with von Recklinghausen neurofibromatosis (NF1) in
association with a balanced translocation between chromosome 17 and 22 [46, XX, t (17; …

Abstract δ-Aminolevulinate synthase (ALAS) catalyzes the first committed step of heme
biosynthesis. Previous studies suggested that there were erythroid and non-erythroid ALAS …

Abstract VON Recklinghausen neurofibromatosis (NF-1) 1–4 is a common autosomal
dominant disorder. The estimated new mutation rate (1 x 10− 4) is one of the highest for a …

Abstract Type 1 neurofibromatosis (NF1) is a common autosomal dominant disorder that
affects tissues derived from the neural crest. The manifestations are varied, comprising …

Abstract Development of physical genomic maps is facilitated by identification of overlapping
recombinant DNA clones containing long chromosomal DNA inserts. To simplify the analysis …

Von Recklinghausen neurofibromatosis (NFI) is a common autosomal dominant disorder
mapped to 17q 11.2 and typically characterized by the occurrence of neural crest‐derived …