We present a case of prenatal diagnosis of Fanconi anaemia (FA) in a pair of twins at 14 weeks of gestation. The parents had previously had two children: a healthy boy and a boy with FA belonging to complementation group C (FAC). The FA patient is a compound heterozygote, carrying a 322delG and a IV
β¦ LIBER β¦
FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia
β Scribed by M. Murer-Orlando; J.C. Llerena Jr; F. Birjandi; R.A. Gibson; C.G. Mathew
- Book ID
- 119066460
- Publisher
- The Lancet
- Year
- 1993
- Tongue
- English
- Weight
- 163 KB
- Volume
- 342
- Category
- Article
- ISSN
- 0140-6736
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
EARLY PRENATAL DIAGNOSIS OF FANCONI ANAE
β
M. L. KWEE; J. R. LO TEN FOE; F. ARWERT; G. PALS; K. MADAN; A. NIEUWINT; P. A. I
π
Article
π
1996
π
John Wiley and Sons
π
English
β 422 KB
π 3 views
Rapid diagnosis of Fanconi's anaemia and
β
Seyschab, H.; Schindler, D.; Schroeder-Kurth, T.; Hoehn, H.
π
Article
π
1992
π
Elsevier Science
π
English
β 123 KB
Proteinuria and prenatal diagnosis of co
β
Jaakko Patrakka; Paula Martin; Riitta Salonen; Marjo KestilΓ€; Vesa Ruotsalainen;
π
Article
π
2002
π
The Lancet
π
English
β 802 KB
PK MONDOR: PRENATAL DIAGNOSIS OF A FRAME
β
H. ROUGER; E. GIRODON; M. GOOSSENS; F. GALACTΓROS; M. COHEN-SOLAL
π
Article
π
1996
π
John Wiley and Sons
π
English
β 767 KB
A mutant form of pyruvate kinase (PK) from the red blood cells of a consanguineous family with severe non-spherocytic haemolytic anaemia has been characterized by polymerase chain reaction (PCR) amplification and sequencing. The variant enzyme was named PK Mondor, according to the recommendations of
Spectrum and significance of variants an
β
Stefan Meyer; Lisa M. Barber; Daniel J. White; Andrew M. Will; Jillian M. Birch;
π
Article
π
2006
π
John Wiley and Sons
π
English
β 282 KB
New prenatal diagnosis mehod of steroid
β
Z. Hayashi; A. Yamanaka; S. Suzuki; R. Sawa; Y. Yoneyama; Y. Asakura; T. Araki
π
Article
π
2000
π
Elsevier Science
π
English
β 158 KB