Trioche P, Francoual J, Chalas J, Capel L, Bernard O, Labrune P
Service de Pédiatrie and UPRES EA 2704, Hôpital Antoine Béclère, Clamart, France.
Hum Mutat. 1999;14(1):91. doi: 10.1002/(SICI)1098-1004(1999)14:1<91::AID-HUMU21>3.0.CO;2-B.
Three novel mutations, Q54P, W70X and T1081, were identified in the gene encoding glucose-6-phosphatase in three patients with glycogen storage disease type Ia. Two sibs of Portuguese origin were homozygous for the Q54P mutation whereas the third patient, originating from both France and Lebanon, was a compound heterozygote for the W70X and T108I mutations. Glycogen storage disease type Ia is a heterogeneous autosomal recessive condition.
在三名1a型糖原贮积病患者中，发现葡萄糖-6-磷酸酶编码基因存在三种新突变，即Q54P、W70X和T108I。两名葡萄牙裔同胞为Q54P突变纯合子，而第三名患者来自法国和黎巴嫩，是W70X和T108I突变的复合杂合子。1a型糖原贮积病是一种异质性常染色体隐性疾病。
