[PDF][PDF] G6PD deficiency

E Beutler - 1994 - Citeseer
T HIRTY-FIVE YEARS ago Dr William Dameshek, the first editor of the emerging journal
Blood, invited me to write a review on “The Hemolytic Effect of Primaquine.”'At the time …

Glucose-6-phosphate dehydrogenase: update and analysis of new mutations around the world

S Gómez-Manzo, J Marcial-Quino… - International journal of …, 2016 - mdpi.com
Glucose-6-phosphate dehydrogenase (G6PD) is a key regulatory enzyme in the pentose
phosphate pathway which produces nicotinamide adenine dinucleotide phosphate …

Glucose-6-phosphate dehydrogenase deficiency and malaria: cytochemical detection of heterozygous G6PD deficiency in women

AL Peters, CJFV Noorden - Journal of Histochemistry & …, 2009 - journals.sagepub.com
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a X-chromosomally transmitted
disorder of the erythrocyte that affects 400 million people worldwide. Diagnosis of …

Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure

A Marozzi, E Manfredini, M Tibiletti, D Furlan, N Villa… - Human Genetics, 2000 - Springer
High-resolution cytogenetic analysis of a large number of women with premature ovarian
failure (POF) identified six patients carrying different Xq chromosome rearrangements. The …

Deletion (X)(q26. 1--> q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions.

AT Tharapel, KP Anderson, JL Simpson… - American journal of …, 1993 - ncbi.nlm.nih.gov
During a routine prenatal diagnosis we detected a female fetus with an apparent terminal
deletion of an X chromosome with a karyotype 46, X, del (X)(q25); the mother, who later …

Physical map of human Xq27-qter: localizing the region of the fragile X mutation.

A Poustka, A Dietrich, G Langenstein… - Proceedings of the …, 1991 - National Acad Sciences
We describe a physical map of the end of the long arm of the human X chromosome
encompassing the region from Xq27. 2 to the q telomere, inclusive of the chromosomal band …

Comparative map for mice and humans

JH Nadeau, MT Davisson, DP Doolittle, P Grant… - Mammalian …, 1992 - Springer
This report summarizes the status of the comparative map for genes and anonymous loci
that have been mapped in mice and humans. Table 1 provides a listing of loci that compose …

Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.

JT Clarke, PJ Wilson, CP Morris… - American journal of …, 1992 - ncbi.nlm.nih.gov
We report the results of studies on the characterization of the mutation associated with
marked unbalanced expression of the mutant X chromosome in a karyotypically normal girl …

An analysis of Xq deletions

P Maraschio, R Tupler, L Barbierato, E Dainotti… - Human genetics, 1996 - Springer
We characterized by fluorescence in situ hybridization and Southern blotting 14 partial Xq
monosomies, 11 due to terminal deletions and 3 secondary to X/autosome translocations …

Yeast artificial chromosomes containing human Xq24–Xq28 DNA: Library construction and representation of probe sequences

FE Abidi, M Wada, RD Little, D Schlessinger - Genomics, 1990 - Elsevier
A library of yeast artificial chromosomes (YACs) with human DNA inserts has been
assembled from a human/hamster somatic cell hybrid containing Xq24-Xqter human DNA …