Authors:
ENG CM
NIEHAUS DJ
ENRIQUEZ AL
BURGERT TS
LUDMAN MD
DESNICK RJ
Citation: Cm. Eng et al., FABRY-DISEASE - 23 MUTATIONS INCLUDING SENSE AND ANTISENSE CPG ALTERATIONS AND IDENTIFICATION OF A DELETIONAL HOT-SPOT IN THE ALPHA-GALACTOSIDASE-A GENE, Human molecular genetics, 3(10), 1994, pp. 1795-1799
Citation: Cm. Eng et al., FABRY DISEASE - 18 NEW MUTATIONS INCLUDING SENSE AND ANTISENSE CPG ALTERATIONS THAT PROVIDE GENOTYPE-PHENOTYPE CORRELATIONS, Clinical research, 42(2), 1994, pp. 10000200-10000200
Authors:
ENG CM
RESNICKSILVERMAN LA
NIEHAUS DJ
ASTRIN KH
DESNICK RJ
Citation: Cm. Eng et al., NATURE AND FREQUENCY OF MUTATIONS IN THE ALPHA-GALACTOSIDASE-A GENE THAT CAUSE FABRY DISEASE, American journal of human genetics, 53(6), 1993, pp. 1186-1197
Authors:
ENG CM
NIEHAUS DJ
BLUMENFELD A
PEARSON J
HIRSCHHORN K
DESNICK RJ
Citation: Cm. Eng et al., PRENATAL-DIAGNOSIS OF FAMILIAL DYSAUTONOMIA BY ANALYSIS OF LINKED CA REPEATS ON CHROMOSOME 9Q31, American journal of human genetics, 53(3), 1993, pp. 87-87
Authors:
NIEHAUS DJ
ENG CM
RESNICKSILVERMAN L
ASTRIN KA
DESNICK RJ
Citation: Dj. Niehaus et al., FABRY DISEASE - MOLECULAR ANALYSIS OF CLASSICAL AND VARIANT PHENOTYPES, American journal of human genetics, 53(3), 1993, pp. 214-214