Publication Detail

Coriell Institute for Medical Research

Publication

Zhong N, Martiniuk F, Tzall S, Hirschhorn R, Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele. Am J Hum Genet49:635-45 1991

PubMed ID: 1652892

Records Return: (11)

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Catalog ID	Gender	Age at Sampling	Family	Relationship	Description	Collection_Type_id
GM04912	Male	4 MO	2440	proband	GLYCOGEN STORAGE DISEASE II	GM
GM09282	Female	10 MO	2135	proband	GLYCOGEN STORAGE DISEASE II	GM
GM01464	Female	46 YR	173	proband	GLYCOGEN STORAGE DISEASE II	GM
GM00244	Female	5 MO		proband	GLYCOGEN STORAGE DISEASE II	GM
GM06314	Female	40 YR		proband	GLYCOGEN STORAGE DISEASE II	GM
GM01935	Female	30 YR		proband	GLYCOGEN STORAGE DISEASE II	GM
GM00248	Male	5 MO		proband	GLYCOGEN STORAGE DISEASE II	GM
GM00443	Male	30 YR		proband	GLYCOGEN STORAGE DISEASE II	GM
GM03329	Male	2 YR		proband	GLYCOGEN STORAGE DISEASE II	GM
GM05659	Male	1 YR		proband	APPARENTLY HEALTHY INDIVIDUAL	GM
GM00338	Male	1 MO		proband	GLYCOGEN STORAGE DISEASE II	GM

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Coriell Institute for Medical Research
403 Haddon Avenue Camden, NJ 08103, USA (856) 966-7377