COL1A1: Mutations of the collagen I type alpha 1 gene.
COL1A2: Mutations of the collagen I type alpha II gene.
COL3A1: Mutations of the collagen III type alpha 1 gene.
PAH: Mutations of the phenylalanine hydroxylase (PAH) gene.
The below listed mutations are downloaded from Wiley Interscience
DHCR7:Mutations in the DHCR7 Gene in Patients With Smith-Lemli-Opitz Syndrome.
USH1C: Mutations of the USH1C Gene.
DTD: Mutations of the DTD ( Human sulfate transporter) Gene.
RPGR: Mutations of the Human retinitis pigmentosa GTPase regulator (RPGR) Gene.
KvLQT1: Mutations of the KvLQT1 Gene.
Spast: Mutations of the Spast Gene.
MECP2: Mutations of the MECP2 Gene.
BRCA2: Mutations of the BRCA2 ( Human breast cancer susceptibility ) Gene.
UROD: Seven Novel Point Mutations in the Uroporphyrinogen Decarboxylase (UROD) Gene in Patients With Familial Porphyria Cutanea Tarda (f-PCT).
ROR2: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.
CTNS: Identification of 14 Novel CTNS Mutations and Characterization of Seven Splice Site Mutations Associated With Cystinosis Vasiliki Kalatzis.
LIS1Mutations in the LIS1 Gene (PAFAH1B1).
F8C Mutations in the Human coagulation factor VIII:C.
MTM1 Characterization of Mutations in Fifty North American Patients With X-linked Myotubular Myopathy
KCNQ1 DHPLC Analysis of Potassium Ion Channel Genes in Congenital Long QT Syndrome (KvLQT1).
AGLMolecular Characterisation of GSD III Subjects and Identification of Six Novel Mutations in AGL.
Intragenic Polymorphisms and Haplotype Analysis in the Ornithine Transcarbamylase (OTC) Gene and Their Relevance For Tracking the Inheritance of OTC Deficiency Consuelo Climent and Vicente Rubio.