TY  - GEN
AU  - Becker,K
AU  - Csikós,M
AU  - Horváth,A
AU  - Kárpáti,S
TI  - Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hünermann-Happle syndrome
SN  - 0906-6705
PY  - 2001///1025
KW  - Adolescent
KW  - Amino Acid Substitution
KW  - Base Sequence
KW  - genetics
KW  - Chondrodysplasia Punctata
KW  - Electrophoresis, Polyacrylamide Gel
KW  - Female
KW  - Heteroduplex Analysis
KW  - Heterozygote
KW  - Humans
KW  - Mutation, Missense
KW  - Pedigree
KW  - Polymerase Chain Reaction
KW  - Reference Values
KW  - Steroid Isomerases
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1034/j.1600-0625.2001.100409.x
ER  -