Gahl W A, Dalakas M C, Charnas L, Chen K T, Pezeshkpour G H, Kuwabara T, Davis S L, Chesney R W, Fink J, Hutchison H T
Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, Bethesda, MD 20892.
N Engl J Med. 1988 Dec 1;319(22):1461-4. doi: 10.1056/NEJM198812013192206.