Hot spot mutations in adenosine deaminase deficiency.

Por Hirschhorn, R, Tzall, S, Ellenbogen, A
Publicado em 1990

Further characterization of SacI RFLPs at the Acid Alpha Glucosidase (GAA) locus

Por Tzall, S., Martiniuk, F., Hirschhorn, R.
Publicado em 1990

Identification of a HindIII and a TaqI RFLP at the acid alpha glucosidase (GAA) locus

Por Tzall, S., Martiniuk, F., Hirschhorn, R.
Publicado em 1991

Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.

Por Hirschhorn, R, Tzall, S, Ellenbogen, A, Orkin, S H
Publicado em 1989

Identification of an RsaI RFLP at the acid alpha glucosidase (GAA) locus

Por Tzall, S., Martiniuk, F., Adler, A., Hirschhorn, R.
Publicado em 1990

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 f...

Por Zhong, N, Martiniuk, F, Tzall, S, Hirschhorn, R
Publicado em 1991

Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in defic...

Por Martiniuk, F, Bodkin, M, Tzall, S, Hirschhorn, R
Publicado em 1990

Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus.

Por Tzall, S, Ellenbogen, A, Eng, F, Hirschhorn, R
Publicado em 1989

Further characterization of PstI RFLPs at the acid alpha glucosidase (GAA) locus

Por Tzall, S., Martiniuk, F., Ozelius, L., Gusella, J., Hirschhorn, R.
Publicado em 1991

Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.

Por Martiniuk, F, Mehler, M, Tzall, S, Meredith, G, Hirschhorn, R
Publicado em 1990

Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients.

Por Martiniuk, F, Mehler, M, Pellicer, A, Tzall, S, La Badie, G, Hobart, C, Ellenbogen, A, Hirschhorn, R
Publicado em 1986